Clinical Genomics

JSON
CSV
XLSX
TXT

Clinical Genomics platform, contains the following units: - Clinical Genomics Gothenburg - Clinical Genomics Lund - Clinical Genomics Linköping - Clinical Genomics Stockholm - Clinical Genomics Uppsala - Clinical Genomics Umeå - Clinical Genomics Örebro

Primary: Shown in the list of current labels, if end date is not specified.

Started: -

Ended: Current

Year 2025

PubMed DOI Crossref
Modulation of biological activities in adipose derived stem cells by histone deacetylation.
Abdallah S, Tabebi M, Qanadilo S, ..., Elmasry M, El-Serafi A
Sci Rep 15 (1) 3629 [2025-01-29; online 2025-01-29]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative]
PubMed DOI Crossref
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Ehn E, Eisfeldt J, Laffita-Mesa JM, ..., Nennesemo I, Graff C
Sci Rep 15 (1) 2912 [2025-01-23; online 2025-01-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2024

PubMed DOI Crossref
A landscape of X-inactivation during human T cell development.
Gylemo B, Bensberg M, Hennings V, ..., Ekwall O, Nestor CE
Nat Commun 15 (1) 10527 [2024-12-04; online 2024-12-04]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
The evolutionary history of metastatic pancreatic neuroendocrine tumours reveals a therapy driven route to high-grade transformation.
Backman S, Botling J, Nord H, ..., Åkerström T, Crona J
J. Pathol. 264 (4) 357-370 [2024-12-00; online 2024-10-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.
Maya-González C, Delgado-Vega AM, Taylan F, ..., Martinsson T, Nordgren A
Am. J. Med. Genet. A 194 (12) e63812 [2024-12-00; online 2024-07-11]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genetic analysis and family screening for dilated cardiomyopathy: a retrospective analysis of the stepwise pedigree approach.
Ylipää J, Andersson T
Scand Cardiovasc J 58 (1) 2379356 [2024-12-00; online 2024-07-24]
Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.
De Coster W, Höijer I, Bruggeman I, ..., Ameur A, Rademakers R
Genome Res. 34 (11) 2074-2080 [2024-11-20; online 2024-11-20]
Clinical Genomics [Technology development] Clinical Genomics Uppsala [Technology development] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, ..., Carvalho CMB, Lindstrand A
Genome Res. 34 (11) 1785-1797 [2024-11-20; online 2024-11-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, ..., Feuk L, Lindstrand A
Genome Res. 34 (11) 1774-1784 [2024-11-20; online 2024-11-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [['Collaborative', 'Collaborative']] Clinical Genomics Umeå [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Detecting transposable elements in long read genomes using sTELLeR.
Bilgrav Saether K, Eisfeldt J
Bioinformatics - (-) - [2024-11-18; online 2024-11-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I, Lin Y, Mondini J, ..., Haglund de Flon F, Wallander K
Cancers (Basel) 16 (22) 3816 [2024-11-13; online 2024-11-13]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.
Batkovskyte D, Swolin-Eide D, Hammarsjö A, ..., Åström E, Grigelioniene G
Am. J. Med. Genet. A - (-) e63935 [2024-11-08; online 2024-11-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Pasteurella multocida from deep nasal swabs and tracheobronchial lavage in bovine calves from Sweden.
Myrenås M, Pringle M, Harbom B, Bengtsson B
Acta Vet. Scand. 66 (1) 58 [2024-11-05; online 2024-11-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Spatial Multiomics Reveals Intratumoral Immune Heterogeneity with Distinct Cytokine Networks in Lung Cancer Brain Metastases.
Christensson G, Bocci M, Kazi JU, ..., Gonzalez Velozo H, Hagerling C
Cancer Res Commun 4 (11) 2888-2902 [2024-11-01; online 2024-10-14]
Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Transcriptomic profiles of myxofibrosarcoma and undifferentiated pleomorphic sarcoma correlate with clinical and genomic features.
Mitra S, Farswan A, Piccinelli P, ..., Pillay N, Mertens F
J. Pathol. 264 (3) 293-304 [2024-11-00; online 2024-09-11]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Sensitive and Specific Droplet Digital PCR Assays for Circulating Tumor HPV DNA: Development, Validation, and Clinical Application in HPV-Associated Cancers.
Qvick A, Andersson E, Oldaeus Almerén A, ..., Karlsson MG, Helenius G
Mol Diagn Ther 28 (6) 835-845 [2024-11-00; online 2024-09-26]
Clinical Genomics [Technology development] Clinical Genomics Örebro [Technology development]
PubMed DOI Crossref
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A
Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [['Service', 'Service', 'Collaborative']] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular Profiling Defines Three Subtypes of Synovial Sarcoma.
Chen Y, Su Y, Cao X, ..., Li X, de Flon FH
Adv Sci (Weinh) 11 (41) e2404510 [2024-11-00; online 2024-09-10]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] Global Proteomics and Proteogenomics [Service]
DOI Crossref
Genomic analyses of Streptococcus uberis reveal high diversity but few antibiotic resistance genes
Myrenås M, Fasth C, Waller KP, Pedersen K
Vet. Microbiol. - (-) 110319 [2024-11-00; online 2024-11-00]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Androgen receptor pathway inhibitors and taxanes in metastatic prostate cancer: an outcome-adaptive randomized platform trial.
De Laere B, Crippa A, Discacciati A, ..., Grönberg H, Lindberg J
Nat. Med. 30 (11) 3291-3302 [2024-11-00; online 2024-08-20]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
An ancient ecospecies of Helicobacter pylori.
Tourrette E, Torres RC, Svensson SL, ..., Thorell K, Falush D
Nature 635 (8037) 178-185 [2024-11-00; online 2024-10-16]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Comparative Analysis of Plasma Protein Dynamics in Women with ST-Elevation Myocardial Infarction and Takotsubo Syndrome.
Hussain S, Jha S, Berger E, ..., Omerovic E, Redfors B
Cells 13 (21) 1764 [2024-10-24; online 2024-10-24]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Collaborative]
PubMed DOI Crossref
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.
Correia SP, Moedas MF, Taylor LS, ..., Wedell A, Wredenberg A
JCI Insight 9 (20) - [2024-10-22; online 2024-10-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study.
Maya-González C, Tettamanti G, Taylan F, ..., Sejersen T, Nordgren A
Neurology 103 (8) e209883 [2024-10-22; online 2024-09-19]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Building pangenome graphs.
Garrison E, Guarracino A, Heumos S, ..., Williams RW, Prins P
Nat. Methods - (-) - [2024-10-21; online 2024-10-21]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
In vivo dendritic cell reprogramming for cancer immunotherapy.
Ascic E, Åkerström F, Sreekumar Nair M, ..., Rosa FF, Pereira CF
Science 386 (6719) eadn9083 [2024-10-18; online 2024-10-18]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Early evolutionary branching across spatial domains predisposes to clonal replacement under chemotherapy in neuroblastoma.
Karlsson J, Yasui H, Mañas A, ..., Bexell D, Gisselsson D
Nat Commun 15 (1) 8992 [2024-10-18; online 2024-10-18]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Parvimonas micra forms a distinct bacterial network with oral pathobionts in colorectal cancer patients.
Löwenmark T, Köhn L, Kellgren T, ..., Edin S, Palmqvist R
J Transl Med 22 (1) 947 [2024-10-17; online 2024-10-17]
Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]
PubMed DOI Crossref
Defective ribosome assembly impairs leukemia progression in a murine model of acute myeloid leukemia.
Sjövall D, Ghosh S, Fernandez-Fuentes N, ..., Guibentif C, Jaako P
Cell Rep 43 (11) 114864 [2024-10-15; online 2024-10-15]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis.
Brahimllari O, Eloranta S, Georgii-Hemming P, ..., Wästerlid T, Boman M
Health Informatics J 30 (4) 14604582241290725 [2024-10-12; online 2024-10-12]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
DOI Crossref
Genomic Analyses of Methicillin-Resistant Staphylococcus pseudintermedius from Companion Animals Reveal Changing Clonal Populations, Multidrug Resistance, and Virulence
Myrenås M, Pedersen K, Windahl U
Antibiotics (Basel) 13 (10) 962 [2024-10-12; online 2024-10-12]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
The power of hybridization capture - Illustrated using an expanded gene panel on 100 post mortem samples, focusing on sudden unexplained death.
Kling D, Adolfsson E, Gréen H, Gréen A
Forensic Sci Int Genet 74 (-) 103160 [2024-10-11; online 2024-10-11]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Early-Life Hygiene-Related Factors and Risk of Inflammatory Bowel Disease: A Scandinavian Birth Cohort Study.
Guo A, Östensson M, Størdal K, Ludvigsson J, Mårild K
Inflamm Bowel Dis 30 (10) 1820-1830 [2024-10-03; online 2023-11-03]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Childhood Socioeconomic Characteristics and Risk of Inflammatory Bowel Disease: A Scandinavian Birth Cohort Study.
Sigvardsson I, Størdal K, Östensson M, ..., Ludvigsson J, Mårild K
Inflamm Bowel Dis 30 (10) 1801-1811 [2024-10-03; online 2023-09-23]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
A novel SARS-CoV-2 recombinant transmitted from a patient with an acute co-infection.
Dyrdak R, Stamouli S, Ganeshappa Aralaguppe S, ..., Murrell B, Albert J
Lancet Microbe - (-) 100998 [2024-10-01; online 2024-10-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Tvergaard NK, Tkemaladze T, Stödberg T, ..., Tümer Z, Bayat A
Clin. Genet. 106 (4) 427-436 [2024-10-00; online 2024-06-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Molecular Subtypes Are Associated With Clinical Benefit in Cisplatin-Treated Metastatic Urothelial Cancer Patients.
Holmsten K, Sjödahl G, Abrahamsson J, ..., Liedberg F, Ullén A
JCO Precision Oncology 8 (-) e2400209 [2024-10-00; online 2024-10-02]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.
Horváth V, Garza R, Jönsson ME, ..., Douse CH, Jakobsson J
Nat. Struct. Mol. Biol. 31 (10) 1543-1556 [2024-10-00; online 2024-06-04]
Clinical Genomics [Service] Clinical Genomics Lund [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epidemiology and ecology of the sylvatic cycle of African Swine Fever Virus in Kenya.
Obanda V, Akinyi M, King'ori E, ..., Stenberg-Lewerin S, Lwande OW
Virus Res. 348 (-) 199434 [2024-10-00; online 2024-07-19]
Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]
PubMed DOI Crossref
Early unrecognised SARS-CoV-2 introductions shaped the first pandemic wave, Sweden, 2020.
Dyrdak R, Hodcroft EB, Broddesson S, ..., Neher RA, Albert J
Euro Surveill. 29 (41) - [2024-10-00; online 2024-10-11]
Clinical Genomics [['Service', 'Collaborative']] Clinical Genomics Stockholm [Service] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Duloxetine enhances PAX6 expression and suppresses innate immune responses in murine LPS-induced corneal inflammation.
Moustardas P, Abbasi M, Javidjam D, ..., Aberdam D, Lagali N
Ocul Surf 34 (-) 225-234 [2024-10-00; online 2024-08-08]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Single-cell genomics details the maturation block in BCP-ALL and identifies therapeutic vulnerabilities in DUX4-r cases.
Thorsson H, Henningsson R, Puente-Moncada N, ..., Lilljebjörn H, Fioretos T
Blood 144 (13) 1399-1411 [2024-09-26; online 2024-07-05]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Hematopoietic cells emerging from hemogenic endothelium exhibit lineage-specific oxidative stress responses.
Biezeman H, Nubiè M, Oburoglu L
J. Biol. Chem. 300 (11) 107815 [2024-09-24; online 2024-09-24]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A Versatile and Upgraded Version of the LundTax Classification Algorithm Applied to Independent Cohorts.
Cotillas EA, Bernardo C, Veerla S, ..., Sjödahl G, Eriksson P
J Mol Diagn - (-) - [2024-09-24; online 2024-09-24]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Enrichment Reveals Extensive Integration of Hepatitis B Virus DNA in Hepatitis Delta Virus-Infected Patients.
Ringlander J, Strömberg LG, Stenbäck JB, ..., Rydell GE, Lindh M
J. Infect. Dis. 230 (3) e684-e693 [2024-09-23; online 2024-01-25]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Cancer associated variant enrichment CAVE, a gene agnostic approach to identify low burden variants in chronic lymphocytic leukemia.
Yaacov A, Lazarian G, Pandzic T, ..., Rosenberg S, Soussi T
Sci Rep 14 (1) 21962 [2024-09-20; online 2024-09-20]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Early-Life Diet Diversity and the Subsequent Risk of Inflammatory Bowel Disease: Findings From Two Scandinavian Birth Cohorts.
Guo A, Ludvigsson J, Hård Af Segerstad EM, ..., Størdal K, Mårild K
Inflamm Bowel Dis - (-) - [2024-09-13; online 2024-09-13]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.
Gregersen PA, Hammarsjö A, Graversen L, ..., Hellfritzsch MB, Grigelioniene G
Clin. Genet. - (-) - [2024-09-06; online 2024-09-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
In silico gepotidacin target mining among 33 213 global Neisseria gonorrhoeae genomes from 1928 to 2023 combined with gepotidacin MIC testing of 22 gonococcal isolates with different GyrA and ParC substitutions.
David A, Golparian D, Jacobsson S, ..., Davies C, Unemo M
J. Antimicrob. Chemother. 79 (9) 2221-2226 [2024-09-03; online 2024-07-15]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Atypical Interference in Hb A1c Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants.
Strålfors A, Lagerstedt-Robinson K, Landin B
Clin. Chem. 70 (9) 1185-1187 [2024-09-03; online 2024-07-03]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
Paucar M, Nilsson D, Engvall M, ..., Wedell A, Svenningsson P
J. Intern. Med. 296 (3) 234-248 [2024-09-00; online 2024-07-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Activating mutations remodel the chromatin accessibility landscape to drive distinct regulatory networks in KMT2A-rearranged acute leukemia.
Zhang Q, Falqués-Costa T, Pilheden M, ..., Hyrenius-Wittsten A, Hagström-Andersson AK
Hemasphere 8 (9) e70006 [2024-09-00; online 2024-09-26]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Soft Tissue Tumor with PAK2::RAF1 Kinase Fusion: An Emerging Sarcoma Entity.
Haglund C, Behrendtz M, Hesla A, Haglund de Flon F
Case Rep Oncol 17 (1) 960-965 [2024-08-30; online 2024-08-30]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
DNA methylation governs the sensitivity of repeats to restriction by the HUSH-MORC2 corepressor.
Pandiloski N, Horváth V, Karlsson O, ..., Jakobsson J, Douse CH
Nat Commun 15 (1) 7534 [2024-08-30; online 2024-08-30]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Conference report: the first bacterial genome sequencing pan-European network conference.
Germuskova Z, Sosa E, Lagos AC, ..., Mölling P, Egli A
Microbes Infect - (-) 105410 [2024-08-30; online 2024-08-30]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
DOI Crossref
Fraggler: A Python Package and CLI Tool for Automated Fragment Analysis
Rosenbaum W, Larsson P
JOSS 9 (100) 6869 [2024-08-26; online 2024-08-26]
Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]
PubMed DOI Crossref
BaTwa populations from Zambia retain ancestry of past hunter-gatherer groups.
Breton G, Barham L, Mudenda G, ..., Schlebusch CM, Jakobsson M
Nat Commun 15 (1) 7307 [2024-08-24; online 2024-08-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.
Chiang SCC, Covill LE, Tesi B, ..., Meeths M, Bryceson YT
Blood 144 (8) 873-887 [2024-08-22; online 2024-07-03]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Surface-Shaving of Staphylococcus aureus Strains and Quantitative Proteomic Analysis Reveal Differences in Protein Abundance of the Surfaceome.
Karlsson A, Alarcón LA, Piñeiro-Iglesias B, ..., Jin T, Karlsson R
Microorganisms 12 (8) - [2024-08-21; online 2024-08-21]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service]
PubMed DOI Crossref
Escherichia coli in urban marine sediments: interpreting virulence, biofilm formation, halotolerance, and antibiotic resistance to infer contamination or naturalization.
Erb IK, Suarez C, Frank EM, ..., Lindberg E, Paul CJ
FEMS Microbes 5 (-) xtae024 [2024-08-14; online 2024-08-14]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Micro-costing of genetic diagnostics in acute leukemia in Sweden: from standard-of-care to whole-genome sequencing.
Thangavelu T, Wirta V, Orsmark-Pietras C, ..., Rosenquist R, Levin LÅ
J Med Econ 27 (1) 1053-1060 [2024-08-08; online 2024-08-08]
Clinical Genomics [['Service', 'Service', 'Collaborative']] Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Systematic review and feasibility study on pre-analytical factors and genomic analyses on archival formalin-fixed paraffin-embedded breast cancer tissue.
Salgkamis D, Sifakis EG, Agartz S, ..., Matikas A, Zerdes I
Sci Rep 14 (1) 18275 [2024-08-06; online 2024-08-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
The novel 2024 WHO Neisseria gonorrhoeae reference strains for global quality assurance of laboratory investigations and superseded WHO N. gonorrhoeae reference strains-phenotypic, genetic and reference genome characterization.
Unemo M, Sánchez-Busó L, Golparian D, ..., Wi T, Lahra MM
J. Antimicrob. Chemother. 79 (8) 1885-1899 [2024-08-01; online 2024-06-18]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Multi-parametric atlas of the pre-metastatic liver for prediction of metastatic outcome in early-stage pancreatic cancer.
Bojmar L, Zambirinis CP, Hernandez JM, ..., Jarnagin WR, Lyden D
Nat. Med. 30 (8) 2170-2180 [2024-08-00; online 2024-06-28]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.
Wincent J, Helgadóttir HT, Sergouniotis F, ..., Lindstrand A, Iwarsson E
Acta Obstet Gynecol Scand 103 (8) 1564-1569 [2024-08-00; online 2024-06-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
A cancer immunotherapy modality based on dendritic cell reprogrammingin vivo
Ascic E, Åkerström F, Sreekumar Nair M, ..., Rosa FF, Pereira CF
- - (-) - [2024-07-11; online 2024-07-11]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A DNA Methylation Signature from Buccal Swabs to Identify Tuberculosis Infection.
Karlsson L, Öhrnberg I, Sayyab S, ..., Paues J, Lerm M
J. Infect. Dis. - (-) - [2024-07-04; online 2024-07-04]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Cancer Core Europe: Leveraging Institutional Synergies to Advance Oncology Research and Care Globally.
Carmona J, Chavarria E, Donoghue K, ..., Zwart W, Tabernero J
Cancer Discov 14 (7) 1147-1153 [2024-07-01; online 2024-06-13]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population.
Wang S, Elmgren JK, Eisfeldt J, ..., Tapia-Paez I, Bradley M
JID Innov 4 (4) 100284 [2024-07-00; online 2024-04-29]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
The WHO Enhanced Gonococcal Antimicrobial Surveillance Programme (EGASP) identifies high levels of ceftriaxone resistance across Vietnam, 2023.
Lan PT, Nguyen HT, Golparian D, ..., Unemo M, EGASP-Vietnam WGS study group
Lancet Reg Health West Pac 48 (-) 101125 [2024-07-00; online 2024-06-27]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel.
Orsmark-Pietras C, Lyander A, Ladenvall C, ..., Fioretos T, SciLifeLab Clinical Genomics Platform and Genomic Medicine Sweden
Genes Chromosomes Cancer 63 (7) e23257 [2024-07-00; online 2024-07-20]
Clinical Genomics [['Service', 'Service', 'Technology development']] Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Technology development]
PubMed DOI Crossref
Diagnosis of external ventricular drainage related infections with real-time 16S PCR and third-generation 16S sequencing.
Widén J, Morén J, Mölling P, ..., Sundqvist M, Westman G
Infect Dis (Lond) 56 (7) 521-530 [2024-07-00; online 2024-03-26]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
Gustavsson EK, Sethi S, Gao Y, ..., Hardy J, Ryten M
Sci Adv 10 (26) eadk1296 [2024-06-28; online 2024-06-26]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
NOS2-derived low levels of NO drive psoriasis pathogenesis.
Köhler I, Bivik Eding C, Kasic NK, Verma D, Enerbäck C
Cell Death Dis 15 (6) 449 [2024-06-26; online 2024-06-26]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
DOI Crossref
MOXD1 is a lineage-specific gene and a tumor suppressor in neuroblastoma
Fredlund E, Andersson S, Hilgert E, ..., van Nes J, Mohlin S
Sci Adv 10 (25) - [2024-06-21; online 2024-06-21]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
From SARS-CoV-2 to Global Preparedness: A Graphical Interface for Standardised High-Throughput Bioinformatics Analysis in Pandemic Scenarios and Surveillance of Drug Resistance.
Cumlin T, Karlsson I, Haars J, ..., Ladenvall C, Kaden R
Int J Mol Sci 25 (12) - [2024-06-17; online 2024-06-17]
Clinical Genomics [Technology development] Clinical Genomics Uppsala [Technology development]
PubMed DOI Crossref
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I, Wallander K, Haglund C, ..., Lin Y, Haglund de Flon F
Clin. Cancer Res. 30 (12) 2647-2658 [2024-06-14; online 2024-04-04]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A laboratory-based predictive pathway for the development of Neisseria gonorrhoeae high-level resistance to corallopyronin A, an inhibitor of bacterial RNA polymerase.
Balthazar JT, Golparian D, Unemo M, ..., Vassylyev DG, Shafer WM
Microbiol Spectr 12 (6) e0056024 [2024-06-04; online 2024-04-22]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.
Visuttijai K, Hedberg-Oldfors C, Costello DJ, Bermingham N, Oldfors A
Neuropathol Appl Neurobiol 50 (3) e12995 [2024-06-00; online 2024-06-26]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service] Integrated Microscopy Technologies Gothenburg [Service]
PubMed DOI Crossref
Hybrid capture-based next-generation sequencing of new and old world Orthohantavirus strains and wild-type Puumala isolates from humans and bank voles.
Rosenbaum W, Bovinder Ylitalo E, Castel G, ..., Pettersson L, Tuiskunen Bäck A
J. Clin. Virol. 172 (-) 105672 [2024-06-00; online 2024-03-30]
Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]
PubMed DOI Crossref
Fine-Tuning Amyloid Precursor Protein Expression through Nonsense-Mediated mRNA Decay.
Rahmati M, Chebli J, Kumar Banote R, ..., Zetterberg H, Abramsson A
eNeuro 11 (6) - [2024-06-00; online 2024-06-10]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Tumor-matched and unmatched cancer associated fibroblasts exhibit differential effect on proliferation and FMOD and MMP9 gene expression in head and neck squamous cell carcinoma cells when cocultured in spheroids.
Rademaekers M, Johansson EO, Johansson E, Roberg K, Wiechec E
Cancer Cell Int 24 (1) 190 [2024-05-31; online 2024-05-31]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Tobacco Smoke Exposure in Early Childhood and Later Risk of Inflammatory Bowel Disease: A Scandinavian Birth Cohort Study.
Sigvardsson I, Ludvigsson J, Andersson B, Størdal K, Mårild K
J Crohns Colitis 18 (5) 661-670 [2024-05-31; online 2024-02-08]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Sequential drug treatment targeting cell cycle and cell fate regulatory programs blocks non-genetic cancer evolution in acute lymphoblastic leukemia.
Malyukova A, Lahnalampi M, Falqués-Costa T, ..., Heinäniemi M, Sangfelt O
Genome Biol. 25 (1) 143 [2024-05-31; online 2024-05-31]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
PIK3CA mutations in endocrine-resistant breast cancer.
Schagerholm C, Robertson S, Toosi H, Sifakis EG, Hartman J
Sci Rep 14 (1) 12542 [2024-05-31; online 2024-05-31]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
NGS method for parallel processing of high quality, damaged or fragmented input material using target enrichment.
Lyander A, Gellerbring A, Hägglund M, Elhami K, Wirta V
PLoS ONE 19 (5) e0304411 [2024-05-29; online 2024-05-29]
Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development]
PubMed DOI Crossref
Distinct Infiltration of T Cell Populations in Bladder Cancer Molecular Subtypes.
Sincic V, Arlenhold KF, Richtmann S, ..., Liedberg F, Lundberg K
Cells 13 (11) - [2024-05-28; online 2024-05-28]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma.
Sydow S, Piccinelli P, Mitra S, ..., Spierings D, Mertens F
Commun Biol 7 (1) 606 [2024-05-20; online 2024-05-20]
Clinical Genomics [Service] Clinical Genomics Lund [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Prediction models of persistent taxane-induced peripheral neuropathy among breast cancer survivors using whole-exome sequencing.
Engvall K, Uvdal H, Björn N, Åvall-Lundqvist E, Gréen H
NPJ Precis Oncol 8 (1) 102 [2024-05-16; online 2024-05-16]
Bioinformatics (NBIS) [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel findings in a Swedish primary familial brain calcification cohort.
Sennfält S, Gustavsson P, Malmgren H, ..., Svenningsson P, Paucar M
J. Neurol. Sci. 460 (-) 123020 [2024-05-15; online 2024-04-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Recent dynamics in Neisseria gonorrhoeae genomic epidemiology in Brazil: antimicrobial resistance and genomic lineages in 2017-20 compared to 2015-16.
Golparian D, Bazzo ML, Ahlstrand J, ..., Unemo M, Brazilian-GASP Network
J. Antimicrob. Chemother. 79 (5) 1081-1092 [2024-05-02; online 2024-03-22]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Pharmacodynamic evaluation of ceftriaxone single-dose therapy (0.125-1 g) to eradicate ceftriaxone-susceptible and ceftriaxone-resistant Neisseria gonorrhoeae strains in a hollow fibre infection model for gonorrhoea.
Unemo M, Golparian D, Oxelbark J, ..., Drusano G, Jacobsson S
J. Antimicrob. Chemother. 79 (5) 1006-1013 [2024-05-02; online 2024-03-18]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A, Westbom-Fremer S, Mateoiu C, ..., Hedenfalk I, Sundfeldt K
Hum. Reprod. 39 (5) 1141-1154 [2024-05-02; online 2024-03-09]
Clinical Genomics [['Service', 'Service']] Clinical Genomics Gothenburg [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Experimental Evaluation of a Direct Fitness Effect of the De Novo Evolved Mouse Gene Pldi.
Linnenbrink M, Breton G, Misra P, ..., Dutheil JY, Tautz D
Genome Biol Evol 16 (5) - [2024-05-02; online 2024-05-14]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
Westenius E, Conner P, Pettersson M, ..., Lindstrand A, Iwarsson E
Ultrasound Obstet Gynecol 63 (5) 658-663 [2024-05-00; online 2024-04-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Low birthweight and overweight during childhood and young adulthood and the risk of type 2 diabetes in men: a population-based cohort study.
Célind J, Bygdell M, Bramsved R, ..., Ohlsson C, Kindblom JM
Diabetologia 67 (5) 874-884 [2024-05-00; online 2024-02-22]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Antimicrobial-resistant Neisseria gonorrhoeae in Europe in 2020 compared with in 2013 and 2018: a retrospective genomic surveillance study.
Golparian D, Cole MJ, Sánchez-Busó L, ..., Unemo M, Euro-GASP study group
Lancet Microbe 5 (5) e478-e488 [2024-05-00; online 2024-04-10]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Deciphering the role of FUS::DDIT3 expression and tumor microenvironment in myxoid liposarcoma development.
Ranji P, Jonasson E, Andersson L, ..., Åman P, Ståhlberg A
J Transl Med 22 (1) 389 [2024-04-26; online 2024-04-26]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service]
PubMed DOI Crossref
Exhaustive identification of genome-wide binding events of transcriptional regulators.
Nordin A, Pagella P, Zambanini G, Cantù C
Nucleic Acids Res. 52 (7) e40 [2024-04-24; online 2024-03-19]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Patient-Specific Measurable Residual Disease Markers Predict Outcome in Patients With Myelodysplastic Syndrome and Related Diseases After Hematopoietic Stem-Cell Transplantation.
Tobiasson M, Pandzic T, Illman J, ..., Dybedal I, Hellström-Lindberg E
J Clin Oncol 42 (12) 1378-1390 [2024-04-20; online 2024-01-17]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B, Robinson KL, Abel F, ..., Taylan F, Nordgren A
Lancet Reg Health Eur 39 (-) 100881 [2024-04-00; online 2024-03-19]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Current and emerging sequencing-based tools for precision cancer medicine.
Edsjö A, Gisselsson D, Staaf J, ..., Cavelier L, Rosenquist R
Mol Aspects Med 96 (-) 101250 [2024-04-00; online 2024-02-07]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Cerebrospinal fluid mtDNA concentrations are increased in multiple sclerosis and were normalized after intervention with autologous hematopoietic stem cell transplantation.
Pavlovic I, Zjukovskaja C, Nazir FH, ..., Wiberg A, Burman J
Mult Scler Relat Disord 84 (-) 105482 [2024-04-00; online 2024-02-03]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
DOI Crossref
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
Bruhn H, Naess K, Ygberg S, ..., Wedell A, Wredenberg A
Hum. Mutat. 2024 (-) 1-16 [2024-03-25; online 2024-03-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
MicroRNA-155 mediates multiple gene regulations pertinent to the role of human adipose-derived mesenchymal stem cells in skin regeneration.
Shahin H, Belcastro L, Das J, ..., Elmasry M, El-Serafi AT
Front Bioeng Biotechnol 12 (-) 1328504 [2024-03-18; online 2024-03-18]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative]
PubMed DOI Crossref
Complete reference genomes of two ceftriaxone-resistant Neisseria gonorrhoeae strains identified in routine surveillance in Bangkok, Thailand, using Nanopore Q20+ chemistry, VolTRAX V2b, and Illumina sequencing.
Sangprasert P, Golparian D, Paopang P, ..., Kittiyaowanarn R, Unemo M
Microbiol Resour Announc 13 (3) e0123123 [2024-03-12; online 2024-02-01]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Early-life diet and risk of inflammatory bowel disease: a pooled study in two Scandinavian birth cohorts.
Guo A, Ludvigsson J, Brantsæter AL, ..., Størdal K, Mårild K
Gut 73 (4) 590-600 [2024-03-07; online 2024-03-07]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.
Wang S, Nikamo P, Laasonen L, ..., Ståhle M, Tapia-Paez I
EMBO Mol Med 16 (3) 596-615 [2024-03-00; online 2024-02-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J, Lidéus S, Frykholm C, ..., Wilbe M, Bondeson ML
Eur. J. Hum. Genet. 32 (3) 333-341 [2024-03-00; online 2023-06-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
DOI Crossref
Analysis of genetic variant associated with heart failure mortality implicates thymic stromal lymphopoietin as mediator of strain‐induced myocardial fibroblast‐mast cell crosstalk and fibrosis
Pimpalwar N, Celik S, Karbalaei Sadegh M, ..., Gidlöf O, Smith JG
The FASEB Journal 38 (4) - [2024-02-29; online 2024-02-26]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Prediction of plasma ctDNA fraction and prognostic implications of liquid biopsy in advanced prostate cancer.
Fonseca NM, Maurice-Dror C, Herberts C, ..., Chi KN, Wyatt AW
Nat Commun 15 (1) 1828 [2024-02-28; online 2024-02-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
Diversity in genetic risk of recurrent stroke: a genome-wide association study meta-analysis
Aldridge CM, Armstrong ND, Sunmonu NA, ..., Irvin MR, Worrall BB
Front. Stroke 3 (-) - [2024-02-21; online 2024-02-21]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Editorial: Decoding the genome of acute lymphoblastic leukemia through genomic and transcriptomic approaches.
Jiménez-Morales S, Rojas-Martinez A, Barbany G
Front Oncol 14 (-) 1368676 [2024-02-06; online 2024-02-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, ..., Cobat A, Casanova JL
J. Exp. Med. 221 (2) - [2024-02-05; online 2024-01-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Yahia A, Li D, Lejerkrans S, ..., Kalnak N, Tammimies K
Hum Genet 143 (2) 169-183 [2024-02-00; online 2024-02-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
MiCId GUI: The Graphical User Interface for MiCId, a Fast Microorganism Classification and Identification Workflow with Accurate Statistics and High Recall.
Ogurtsov A, Alves G, Rubio A, ..., Moore ERB, Yu YK
J Comput Biol 31 (2) 175-178 [2024-02-00; online 2024-02-02]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Glycoproteomics and MS Proteomics [Service]
DOI Crossref
Antimicrobial susceptibilities and genomic characteristics of methicillin‐resistant Staphylococcus aureus resistant to mupirocin in Stockholm, Sweden
Vestberg N, Razavi M, Giske CG, Fang H
APMIS 132 (2) 94-99 [2024-02-00; online 2023-11-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.
Covill LE, Sendel A, Campbell TM, ..., Bergman P, Bryceson YT
J Clin Immunol 44 (2) 50 [2024-01-17; online 2024-01-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Metastasis and recurrence patterns in the molecular subtypes of urothelial bladder cancer.
Sjödahl G, Eriksson P, Holmsten K, ..., Ullén A, Liedberg F
Int. J. Cancer 154 (1) 180-190 [2024-01-01; online 2023-09-06]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
pyngoST: fast, simultaneous and accurate multiple sequence typing of Neisseria gonorrhoeae genome collections.
Sánchez-Busó L, Sánchez-Serrano A, Golparian D, Unemo M
Microb Genom 10 (1) - [2024-01-00; online 2024-01-30]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Prognostic value of hypoxia-responsive gene expression profile in patients diagnosed with head and neck squamous cell carcinoma.
Matic N, Pettersson L, Sellebjerg F, ..., Roberg K, Wiechec E
Transl Oncol 39 (-) 101841 [2024-01-00; online 2023-11-27]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
Batkovskyte D, Komatsu M, Hammarsjö A, ..., Nishimura G, Yamada T
Clin. Genet. 105 (1) 87-91 [2024-01-00; online 2023-08-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Birth Weight, Childhood and Young Adult Overweight, and the Risk of Coronary Heart Disease in Men.
Bramsved R, Bygdell M, Martikainen J, ..., Ohlsson C, Kindblom JM
Arterioscler. Thromb. Vasc. Biol. 44 (1) 314-321 [2024-01-00; online 2023-11-16]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Landscape of Epstein-Barr virus gene expression and perturbations in cancer
K. W. Tang YTGXABIHDVea
Res Sq - (-) - [2024-00-00]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]

Year 2023

PubMed DOI Crossref
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.
Krali O, Marincevic-Zuniga Y, Arvidsson G, ..., Syvänen AC, Nordlund J
NPJ Precis Oncol 7 (1) 131 [2023-12-08; online 2023-12-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
Ben-Shabat I, Kvarnung M, Sperker W, ..., Engvall M, Paucar M
Neurol Genet 9 (6) e200100 [2023-12-00; online 2023-11-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Pathogenic DDX41 variants, possible response predictors to low-dose melphalan in hypo- and normocellular MDS and AML.
Nyquist OE, Dalgaard J, Spetalen S, ..., Baliakas P, Dybedal I
Br. J. Haematol. - (-) - [2023-11-28; online 2023-11-28]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Covid-19 vaccine effectiveness against post-covid-19 condition among 589 722 individuals in Sweden: population based cohort study.
Lundberg-Morris L, Leach S, Xu Y, ..., Nyberg F, Bygdell M
BMJ 383 (-) e076990 [2023-11-22; online 2023-11-22]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, ..., Girisha KM, Grigelioniene G
npj Genom. Med. 8 (1) 39 [2023-11-22; online 2023-11-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Complex norovirus transmission dynamics at hospital wards revealed by deep sequencing.
Widström J, Andersson ME, Westin J, ..., Lindh M, Rydell GE
J. Clin. Microbiol. 61 (11) e0060823 [2023-11-21; online 2023-10-27]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Serum DHEA and Testosterone Levels Associate Inversely With Coronary Artery Calcification in Elderly Men.
Ohlsson C, Nethander M, Norlén A, ..., Gudnason V, Tivesten Å
J. Clin. Endocrinol. Metab. 108 (12) 3272-3279 [2023-11-17; online 2023-07-01]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
SNP-based high-resolution typing of Chlamydia psittaci from humans and wild birds in Sweden: circulation of the Mat116 genotype reveals the transmission mode to humans.
Herrmann B, Aaziz R, Kaden R, ..., Sandelin LL, Laroucau K
Microbes Infect 26 (3) 105251 [2023-11-11; online 2023-11-11]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
A Gradual Transition Toward Anaplasia in Wilms Tumor Through Tolerance to Genetic Damage.
Uno K, Rastegar B, Jansson C, ..., Mengelbier LH, Gisselsson D
Mod. Pathol. 37 (1) 100382 [2023-11-10; online 2023-11-10]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Single-cell transcriptomics of human traumatic brain injury reveals activation of endogenous retroviruses in oligodendroglia.
Garza R, Sharma Y, Atacho DAM, ..., Jakobsson J, Marklund N
Cell Rep - (-) 113395 [2023-11-08; online 2023-11-08]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification.
Garza R, Atacho DAM, Adami A, ..., Douse CH, Jakobsson J
Sci Adv 9 (44) eadh9543 [2023-11-03; online 2023-11-01]
Clinical Genomics [Service] Clinical Genomics Lund [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
UROSCAN and UROSCANSEQ: a large-scale multicenter effort towards translation of molecular bladder cancer subtypes into clinical practice – from biobank to RNA-sequencing in real time
Liedberg F, Abrahamsson J, Bernardo C, ..., Sjödahl G, Eriksson P
Scandinavian Journal of Urology 57 (1-6) 2-9 [2023-11-02; online 2022-12-20]
Clinical Genomics [Collaborative] Clinical Genomics Lund [Collaborative]
PubMed DOI Crossref
Sensitivity of the SARS-CoV-2 BA.2.86 variant to prevailing neutralising antibody responses.
Sheward DJ, Yang Y, Westerberg M, ..., Albert J, Murrell B
Lancet Infect Dis 23 (11) e462-e463 [2023-11-00; online 2023-09-27]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Physical activity in childhood and later risk of inflammatory bowel disease: A Scandinavian birth cohort study.
Lerchova T, Östensson M, Sigvardsson I, ..., Mårild K, Ludvigsson J
United European Gastroenterol J 11 (9) 874-883 [2023-11-00; online 2023-10-04]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Intramammary infections and risk factors in freshly calved heifers in Swedish dairy herds.
Persson Waller K, Lundberg Å, Börjesson S, Nyman AK
J Dairy Sci 106 (11) 7893-7907 [2023-11-00; online 2023-05-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Inclusion body myositis with early onset: a population-based study.
Lindgren U, Hedberg-Oldfors C, Pullerits R, Lindberg C, Oldfors A
J. Neurol. 270 (11) 5483-5492 [2023-11-00; online 2023-07-27]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
DOI Crossref
Global blood miRNA profiling unravels early signatures of immunogenicity of Ebola vaccine rVSVΔG-ZEBOV-GP
Vianello E, Persson J, Andersson B, ..., Ottenhoff THM, Harandi AM
iScience - (-) 108574 [2023-11-00; online 2023-11-00]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Genotypic characterization of Staphylococcus chromogenes and Staphylococcus simulans from Swedish cases of bovine subclinical mastitis.
Persson Waller K, Myrenås M, Börjesson S, ..., Östlund E, Cha W
J Dairy Sci 106 (11) 7991-8004 [2023-11-00; online 2023-08-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, ..., Casanova JL, Puel A
Nature 623 (7988) 803-813 [2023-11-00; online 2023-11-08]
Autoimmunity and Serology Profiling [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
An atlas of genetic determinants of forearm fracture.
Nethander M, Movérare-Skrtic S, Kämpe A, ..., Richards JB, Ohlsson C
Nat. Genet. 55 (11) 1820-1830 [2023-11-00; online 2023-11-02]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Low Circulating Valine Associate With High Risk of Hip Fractures.
Grahnemo L, Eriksson AL, Nethander M, ..., Pettersson-Kymmer U, Ohlsson C
J. Clin. Endocrinol. Metab. 108 (11) e1384-e1393 [2023-10-18; online 2023-05-14]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Modified N-acyl-L-homoserine lactone compounds abrogate Las-dependent quorum-sensing response in human pathogen Pseudomonas aeruginosa.
Ballante F, Turkina MV, Ntzouni M, Magnusson KE, Vikström E
Front Mol Biosci 10 (-) 1264773 [2023-10-16; online 2023-10-16]
Chemical Biology Consortium Sweden (CBCS) [Collaborative] Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Genome-wide DNA methylation profiling in Lyme neuroborreliosis reveals altered methylation patterns of HLA genes.
Henningsson AJ, Hellberg S, Lerm M, Sayyab S
J. Infect. Dis. - (-) - [2023-10-12; online 2023-10-12]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S, Kafantari E, Wallenius J, ..., Karrman K, Puschmann A
J. Neurol. - (-) - [2023-10-03; online 2023-10-03]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Erdinc D, Macao B, Valenzuela S, ..., Wredenberg A, Falkenberg M
Biochim Biophys Acta Mol Basis Dis 1869 (7) 166786 [2023-10-00; online 2023-06-10]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Precision medicine in rare diseases: What is next?
Tesi B, Boileau C, Boycott KM, ..., Nordgren A, Lindstrand A
J. Intern. Med. 294 (4) 397-412 [2023-10-00; online 2023-06-01]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Lowering of Circulating Sclerostin May Increase Risk of Atherosclerosis and Its Risk Factors: Evidence From a Genome-Wide Association Meta-Analysis Followed by Mendelian Randomization.
Zheng J, Wheeler E, Pietzner M, ..., Davey Smith G, Tobias JH
Arthritis & rheumatology (Hoboken, N.J.) 75 (10) 1781-1792 [2023-10-00; online 2023-08-03]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Targeting Toll-like receptor-driven systemic inflammation by engineering an innate structural fold into drugs.
Petruk G, Puthia M, Samsudin F, ..., Lindstedt S, Schmidtchen A
Nat Commun 14 (1) 6097 [2023-09-29; online 2023-09-29]
Clinical Genomics [Service] Clinical Genomics Lund [Service] Structural Proteomics [Collaborative]
PubMed DOI Crossref
Prevalence of SARS-CoV-2 Omicron Sublineages and Spike Protein Mutations Conferring Resistance against Monoclonal Antibodies in a Swedish Cohort during 2022-2023.
Haars J, Palanisamy N, Wallin F, ..., Kaden R, Lennerstrand J
Microorganisms 11 (10) - [2023-09-27; online 2023-09-27]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.
De Geer K, Mascianica K, Naess K, ..., Lindstrand A, Björck E
BMC Ophthalmol 23 (1) 394 [2023-09-26; online 2023-09-26]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Single-cell multiomics of human fetal hematopoiesis define a developmental-specific population and a fetal signature.
Sommarin MNE, Olofzon R, Palo S, ..., Karlsson G, Böiers C
Blood Adv 7 (18) 5325-5340 [2023-09-26; online 2023-06-28]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Combined GLUT1 and OXPHOS inhibition eliminates acute myeloid leukemia cells by restraining their metabolic plasticity.
Rodriguez-Zabala M, Ramakrishnan R, Reinbach K, ..., Woods NB, Järås M
Blood Adv 7 (18) 5382-5395 [2023-09-26; online 2023-07-28]
Clinical Genomics [Service] Clinical Genomics Lund [Service] Swedish Metabolomics Centre (SMC) [Service]
PubMed DOI Crossref
Selected β-glucans act as immune-training agents by improving anti-mycobacterial activity in human macrophages - a pilot study.
Braian C, Karlsson L, Das J, Lerm M
J Innate Immun 15 (1) 751-764 [2023-09-21; online 2023-09-21]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative]
PubMed DOI Crossref
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.
Maliński B, Vertemara J, Faustini E, ..., Cammenga J, Lottersberger F
Hum. Mol. Genet. 32 (19) 2901-2912 [2023-09-16; online 2023-07-13]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
In vivo gene expression profile of Haemophilus influenzae during human pneumonia.
Polland L, Rydén H, Su Y, Paulsson M
Microbiol Spectr 11 (5) e0163923 [2023-09-14; online 2023-09-14]
Bioinformatics (NBIS) [['Service', 'Service']] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Epigenetic modifications appear in the human placenta following anxiety and depression during pregnancy.
Martinez CA, Marteinsdottir I, Josefsson A, ..., Theodorsson E, Rodriguez-Martinez H
Placenta 140 (-) 72-79 [2023-09-07; online 2023-08-01]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Trends in invasive bacterial diseases during the first 2 years of the COVID-19 pandemic: analyses of prospective surveillance data from 30 countries and territories in the IRIS Consortium.
Shaw D, Abad R, Amin-Chowdhury Z, ..., Zhou F, Brueggemann AB
Lancet Digit Health 5 (9) e582-e593 [2023-09-00; online 2023-07-27]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Transcriptome network analysis links perinatal Staphylococcus epidermidis infection to microglia reprogramming in the immature hippocampus.
Gravina G, Ardalan M, Chumak T, ..., Ek CJ, Mallard C
Glia 71 (9) 2234-2249 [2023-09-00; online 2023-05-29]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke.
Dorvall M, Pedersen A, Dumanski JP, ..., Stanne TM, Jern C
Stroke 54 (9) 2434-2437 [2023-09-00; online 2023-07-19]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Antimicrobial susceptibilities and genomic epidemiology of Neisseria gonorrhoeae in Stockholm, Sweden
Vestberg N, Bhattarai KH, Fang H
Eur J Clin Microbiol Infect Dis 42 (9) 1073-1079 [2023-09-00; online 2023-07-13]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
Trunk neural crest gene MOXD1 affects embryonic development
Fredlund E, Andersson S, Ferreira M, Mohlin S
- - (-) - [2023-08-31; online 2023-08-31]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Sustained Transmission of Neisseria gonorrhoeae Strains with High-Level Azithromycin Resistance (MIC ≥ 256 μg/mL) in Argentina, 2018 to 2022.
Gianecini RA, Poklepovich T, Golparian D, ..., Campos J, Galarza P
Microbiol Spectr 11 (4) e0097023 [2023-08-17; online 2023-06-20]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.
Baliakas P, Munters AR, Kämpe A, ..., Ladenvall C, Eriksson D
J. Med. Genet. - (-) - [2023-08-14; online 2023-08-14]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
GATA2 mitotic bookmarking is required for definitive haematopoiesis.
Silvério-Alves R, Kurochkin I, Rydström A, ..., Martin-Gonzalez J, Pereira CF
Nat Commun 14 (1) 4645 [2023-08-14; online 2023-08-14]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Rezayee F, Eisfeldt J, Skaftason A, ..., Rosenquist R, Barbany G
Front Oncol 13 (-) 1217712 [2023-08-14; online 2023-08-14]
Clinical Genomics [['Collaborative', 'Service']] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells.
Doimo M, Chaudhari N, Abrahamsson S, ..., Chorell E, Wanrooij S
Nucleic Acids Res. 51 (14) 7392-7408 [2023-08-11; online 2023-06-23]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Genomic surveillance and antimicrobial resistance determinants in Neisseria gonorrhoeae isolates from Uganda, Malawi and South Africa, 2015-20.
Kakooza F, Golparian D, Matoga M, ..., Wi T, Unemo M
J. Antimicrob. Chemother. 78 (8) 1982-1991 [2023-08-02; online 2023-06-23]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Genetic insights into resting heart rate and its role in cardiovascular disease.
van de Vegte YJ, Eppinga RN, van der Ende MY, ..., Verweij N, van der Harst P
Nat Commun 14 (1) 4646 [2023-08-02; online 2023-08-02]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.
Eriksson A, Engvall M, Mathot L, ..., Ladenvall C, Baliakas P
Clin. Cancer Res. 29 (15) 2826-2834 [2023-08-01; online 2023-04-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Two different isoforms of osteopontin modulate myelination and axonal integrity.
Nilsson G, Mottahedin A, Zelco A, ..., Leavenworth JW, Wang X
FASEB Bioadv 5 (8) 336-353 [2023-08-00; online 2023-06-17]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Integrated Microscopy Technologies Gothenburg [Service]
PubMed DOI Crossref
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.
Hedberg-Oldfors C, Mitra S, Molinaro A, ..., Sterky FH, Darin N
Eur. J. Hum. Genet. 31 (8) 887-894 [2023-08-00; online 2023-03-20]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Low-grade intestinal inflammation two decades after pelvic radiotherapy.
Devarakonda S, Thorsell A, Hedenström P, ..., Steineck G, Bull C
EBioMedicine 94 (-) 104691 [2023-08-00; online 2023-07-20]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Collaborative]
PubMed DOI Crossref
Differential DNA Methylation of MicroRNA-Encoding Genes in Psoriatic Epidermis Highlights the Wnt Pathway.
Verma D, Kasic NK, Jeppsson F, ..., Das J, Enerbäck C
J. Invest. Dermatol. 143 (8) 1594-1597.e14 [2023-08-00; online 2023-02-27]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative]
PubMed DOI Crossref
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K, Nilsson D, Thonberg H, ..., Eisfeldt J, Lindstrand A
PLoS ONE 18 (7) e0289346 [2023-07-28; online 2023-07-28]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.
Maya-González C, Wessman S, Lagerstedt-Robinson K, ..., Skarin Nordenvall A, Nordgren A
Front Med (Lausanne) 10 (-) 1172565 [2023-07-28; online 2023-07-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Transplantation of gut microbiota from old mice into young healthy mice reduces lean mass but not bone mass.
Lawenius L, Cowardin C, Grahnemo L, ..., Sjögren K, Ohlsson C
Gut Microbes 15 (1) 2236755 [2023-07-21; online 2023-07-21]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Restoring tumor immunogenicity with dendritic cell reprogramming.
Zimmermannova O, Ferreira AG, Ascic E, ..., Svane IM, Pereira CF
Sci Immunol 8 (85) eadd4817 [2023-07-14; online 2023-07-07]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution.
Rastegar B, Andersson N, Petersson A, ..., Holmquist Mengelbier L, Gisselsson D
Clin. Cancer Res. 29 (14) 2668-2677 [2023-07-14; online 2023-05-04]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
High-level in vitro resistance to gentamicin acquired in a stepwise manner in Neisseria gonorrhoeae.
Golparian D, Jacobsson S, Holley CL, Shafer WM, Unemo M
J. Antimicrob. Chemother. 78 (7) 1769-1778 [2023-07-05; online 2023-05-30]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.
Medina-Gomez C, Mullin BH, Chesi A, ..., Kague E, Rivadeneira F
Commun Biol 6 (1) 691 [2023-07-04; online 2023-07-04]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Incidence and Characteristics in Children with Post-COVID-19 Condition in Sweden.
Bygdell M, Kindblom JM, Martikainen J, Li H, Nyberg F
JAMA Netw Open 6 (7) e2324246 [2023-07-03; online 2023-07-03]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma.
Tabebi M, Frikha F, Volpe M, Gimm O, Söderkvist P
Gene 872 (-) 147432 [2023-07-01; online 2023-04-14]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative]
PubMed DOI Crossref
Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies.
Adolfsson E, Kling D, Gunnarsson C, ..., Gréen H, Gréen A
Int J Legal Med 137 (4) 1215-1234 [2023-07-00; online 2022-11-08]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Urodrill - a novel MRI-guided endoscopic biopsy technique to sample and molecularly classify muscle-invasive bladder cancer without fractionating the specimen during transurethral resection.
Eriksson P, Berg J, Bernardo C, ..., Zackrisson S, Liedberg F
Eur Urol Open Sci 53 (-) 78-82 [2023-07-00; online 2023-06-02]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Henry OJ, Stödberg T, Båtelson S, ..., Stranneheim H, Wedell A
Mol Genet Genomic Med 11 (7) e2167 [2023-07-00; online 2023-03-26]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.
Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G
Am. J. Med. Genet. A 191 (7) 1929-1934 [2023-07-00; online 2023-04-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Core genome multilocus sequence typing (cgMLST) confirms systemic spread of avian pathogenic Escherichia coli (APEC) in broilers with cellulitis.
Jonare L, Östlund E, Söderlund R, ..., Aspán A, Jansson DS
Vet. Microbiol. 282 (-) 109755 [2023-07-00; online 2023-04-24]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A phase I prospective, non-randomized trial of autologous dendritic cell-based cryoimmunotherapy in patients with metastatic castration-resistant prostate cancer.
Thomsen LCV, Honoré A, Reisæter LAR, ..., Kalland KH, Beisland C
Cancer Immunol. Immunother. 72 (7) 2357-2373 [2023-07-00; online 2023-03-20]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib.
Bonfiglio S, Sutton LA, Ljungström V, ..., Rosenquist R, Ghia P
Blood Adv 7 (12) 2794-2806 [2023-06-27; online 2023-01-26]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A, Nordgren I, Pettersson M, ..., Nishimura G, Grigelioniene G
Front Genet 14 (-) 1174046 [2023-06-23; online 2023-06-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Gene expression of S100a8/a9 predicts Staphylococcus aureus-induced septic arthritis in mice.
Deshmukh M, Subhash S, Hu Z, ..., Jin T, Kopparapu PK
Front Microbiol 14 (-) 1146694 [2023-06-15; online 2023-06-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Adipokines and risk of rheumatoid arthritis: A two-sample multivariable Mendelian randomisation study.
Vasileiadis GK, Sayols S, Zhao SS, Fatima T, Maglio C
PLoS ONE 18 (6) e0286981 [2023-06-09; online 2023-06-09]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, ..., Kilpivaara O, Wartiovaara-Kautto U
Blood 141 (23) 2853-2866 [2023-06-08; online 2023-03-24]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Epidemiology, validation, and clinical characteristics of inflammatory bowel disease: the ABIS birth cohort study.
Östensson M, Björkqvist O, Guo A, ..., Mårild K, Ludvigsson J
BMC Gastroenterol 23 (1) 199 [2023-06-08; online 2023-06-08]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Mating modifies the expression of crucial oxidative-reductive transcripts in the pig oviductal sperm reservoir: is the female ensuring sperm survival?
Álvarez-Rodríguez M, Roca J, Martínez EA, Rodríguez-Martínez H
Front Endocrinol (Lausanne) 14 (-) 1042176 [2023-06-07; online 2023-06-07]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
The BioLymph study - implementing precision medicine approaches in lymphoma diagnostics, treatment and follow-up: feasibility and first results.
Smedby KE, Wästerlid T, Tham E, ..., Sonnevi K, Rosenquist R
Acta Oncol 62 (6) 560-564 [2023-06-00; online 2023-07-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.
Wadensten E, Wessman S, Abel F, ..., Gisselsson D, Genomic Medicine Sweden Childhood Cancer Working Group
JCO Precision Oncology 7 (-) e2300039 [2023-06-00; online 2023-06-29]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, ..., Nordgren A, Lindstrand A
Ophthalmic Genet - (-) 1-8 [2023-05-29; online 2023-05-29]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Cisplatin toxicity is counteracted by the activation of the p38/ATF-7 signaling pathway in post-mitotic C. elegans.
Raj D, Kraish B, Martikainen J, ..., Kao G, Naredi P
Nat Commun 14 (1) 2886 [2023-05-20; online 2023-05-20]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Glycoproteomics and MS Proteomics [Service] Integrated Microscopy Technologies Gothenburg [Service]
PubMed DOI Crossref
DNA methylation variations and epigenetic aging in telomere biology disorders.
Carlund O, Norberg A, Osterman P, ..., Degerman S, Hultdin M
Sci Rep 13 (1) 7955 [2023-05-16; online 2023-05-16]
Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
Metagenomic sequencing of human cardiac tissue reveals Microbial RNA which correlates with Toll-like receptor-associated inflammation in patients with heart disease.
Sandstedt J, Vukusic K, Dellgren G, ..., Mattsson Hultén L, Rotter Sopasakis V
Sci Rep 13 (1) 7884 [2023-05-15; online 2023-05-15]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Development of a machine learning framework for radiation biomarker discovery and absorbed dose prediction.
Andersson B, Langen B, Liu P, Dávila López M
Front Oncol 13 (-) 1156009 [2023-05-15; online 2023-05-15]
Clinical Genomics [Technology development] Clinical Genomics Gothenburg [Technology development]
PubMed DOI Crossref
Stress-sensitive dynamics of miRNAs and Elba1 in Drosophila embryogenesis.
Örkenby L, Skog S, Ekman H, ..., Nätt D, Öst A
Mol. Syst. Biol. 19 (5) e11148 [2023-05-09; online 2023-03-20]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Shiga toxin-producing Escherichia coli (STEC) and atypical enteropathogenic E. coli (aEPEC) in Swedish retail wheat flour.
Söderlund R, Flink C, Aspán A, Eriksson E
Access Microbiol 5 (5) - [2023-05-03; online 2023-05-03]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Overweight in childhood and young adulthood increases the risk for adult thromboembolic events.
Lilja L, Bygdell M, Martikainen J, ..., Kindblom JM, Ohlsson C
J. Intern. Med. 293 (5) 615-623 [2023-05-00; online 2023-03-01]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
B4GALNT3 regulates glycosylation of sclerostin and bone mass.
Movérare-Skrtic S, Voelkl J, Nilsson KH, ..., Henning P, Ohlsson C
EBioMedicine 91 (-) 104546 [2023-05-00; online 2023-04-04]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D, McKenzie F, Taylan F, ..., Nishimura G, Grigelioniene G
J. Bone Miner. Res. 38 (5) 692-706 [2023-05-00; online 2023-03-27]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Temporal multimodal single-cell profiling of native hematopoiesis illuminates altered differentiation trajectories with age.
Konturek-Ciesla A, Dhapola P, Zhang Q, ..., Karlsson G, Bryder D
Cell Rep 42 (4) 112304 [2023-04-25; online 2023-03-23]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Transcriptomics unravels molecular changes associated with cilia and COVID-19 in chronic rhinosinusitis with nasal polyps.
Torinsson Naluai Å, Östensson M, Fowler PC, ..., Harandi AM, Bende M
Sci Rep 13 (1) 6592 [2023-04-21; online 2023-04-21]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Identification of three bacterial species associated with increased appendicular lean mass: the HUNT study.
Grahnemo L, Nethander M, Coward E, ..., Hveem K, Ohlsson C
Nat Commun 14 (1) 2250 [2023-04-20; online 2023-04-20]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Comparison of SARS-CoV-2 whole genome sequencing using tiled amplicon enrichment and bait hybridization.
Koskela von Sydow A, Lindqvist CM, Asghar N, ..., Mölling P, Stenmark B
Sci Rep 13 (1) 6461 [2023-04-20; online 2023-04-20]
Clinical Genomics [Technology development] Clinical Genomics Örebro [Technology development]
DOI Crossref
Enhanced protein synthesis is a defining requirement for neonatal B cell development
Åkerstrand H, Boldrin E, Montano G, ..., Bellodi C, Yuan J
Front Immunol 14 (-) - [2023-04-17; online 2023-04-17]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
The complement receptor C3AR constitutes a novel therapeutic target in NPM1-mutated AML.
von Palffy S, Thorsson H, Peña-Martínez P, ..., Lilljebjörn H, Fioretos T
Blood Adv 7 (7) 1204-1218 [2023-04-11; online 2022-11-17]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Matuozzo D, Talouarn E, Marchal A, ..., Abel L, Cobat A
Genome Med 15 (1) - [2023-04-05; online 2023-04-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
methylR: a graphical interface for comprehensive DNA methylation array data analysis.
Volpe M, Das J
Bioinformatics 39 (4) - [2023-04-03; online 2023-04-12]
Clinical Genomics [Technology development] Clinical Genomics Linköping [Technology development]
PubMed DOI Crossref
Immune-related microRNAs in breast milk and their relation to regulatory T cells in breastfed children.
Ahlberg E, Martí M, Govindaraj D, ..., Jenmalm MC, Tingö L
Pediatr Allergy Immunol 34 (4) e13952 [2023-04-00; online 2023-04-27]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
C-type lectin receptor agonists elicit functional IL21-expressing Tfh cells and induce primary B cell responses in neonates.
Vono M, Mastelic-Gavillet B, Mohr E, ..., Lambert P, Siegrist C
Front Immunol 14 (-) 1155200 [2023-03-31; online 2023-03-31]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia.
Woodward EL, Yang M, Moura-Castro LH, ..., Foijer F, Paulsson K
Nat Commun 14 (1) 1658 [2023-03-25; online 2023-03-25]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Exposure to nonanoic acid alters small intestinal neuroendocrine tumor phenotype.
Almobarak B, Amlani V, Inge L, ..., Arvidsson Y, Elias E
BMC Cancer 23 (1) 267 [2023-03-23; online 2023-03-23]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Complete Reference Genome Sequence of the Clinical Neisseria gonorrhoeae Strain H035, with Resistance to the Novel Antimicrobial Zoliflodacin, Identified in Japan in 2000.
Golparian D, Jacobsson S, Ohnishi M, Unemo M
Microbiol Resour Announc 12 (3) e0113022 [2023-03-16; online 2023-02-28]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
A proinsulin-dependent interaction between ENPL-1 and ASNA-1 in neurons is required to maintain insulin secretion in C. elegans.
Podraza-Farhanieh A, Raj D, Kao G, Naredi P
Development 150 (6) - [2023-03-15; online 2023-03-20]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service] Integrated Microscopy Technologies Gothenburg [Service]
PubMed DOI Crossref
One Health surveillance-A cross-sectoral detection, characterization, and notification of foodborne pathogens.
Tast Lahti E, Karamehmedovic N, Riedel H, ..., Zajac M, Jernberg C
Front Public Health 11 (-) 1129083 [2023-03-08; online 2023-03-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Melatonin Prescription in Children and Adolescents in Relation to Body Weight and Age.
Kimland EE, Dahlén E, Martikainen J, Célind J, Kindblom JM
Pharmaceuticals (Basel) 16 (3) - [2023-03-06; online 2023-03-06]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Identification of phenotypically, functionally, and anatomically distinct stromal niche populations in human bone marrow based on single-cell RNA sequencing.
Li H, Bräunig S, Dhapolar P, ..., Lang S, Scheding S
Elife 12 (-) - [2023-03-06; online 2023-03-06]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Venetoclax-Resistant T-ALL Cells Display Distinct Cancer Stem Cell Signatures and Enrichment of Cytokine Signaling.
Shah K, Al Ashiri L, Nasimian A, Ahmed M, Kazi JU
Int J Mol Sci 24 (5) - [2023-03-05; online 2023-03-05]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
miRNome and Proteome Profiling of Human Keratinocytes and Adipose Derived Stem Cells Proposed miRNA-Mediated Regulations of Epidermal Growth Factor and Interleukin 1-Alpha.
Shahin H, Abdallah S, Das J, ..., Elmasry M, El-Serafi AT
Int J Mol Sci 24 (5) - [2023-03-04; online 2023-03-04]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative]
PubMed DOI Crossref
Clonal relationships of memory B cell subsets in autoimmune mice.
Aranburu A, Engström E, Gerasimcik N, ..., Grimsholm O, Mårtensson IL
Front Immunol 14 (-) 1129234 [2023-03-01; online 2023-03-01]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Multidrug-resistant Neisseria gonorrhoeae isolate SE690: mosaic penA-60.001 gene causing ceftriaxone resistance internationally has spread to the more antimicrobial-susceptible genomic lineage, Sweden, September 2022.
Golparian D, Vestberg N, Södersten W, ..., Bhattarai KH, Unemo M
Euro Surveill. 28 (10) - [2023-03-00; online 2023-03-10]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Prevalence and persistence of Neisseria meningitidis carriage in Swedish university students.
Olof S, Lorraine E, Berhane A I, ..., Paula M, Susanne J
Epidemiol. Infect. 151 (-) e25 [2023-02-13; online 2023-02-13]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K, Haider Z, Jeggari A, ..., Lindblad M, Tham E
Cancers (Basel) 15 (4) - [2023-02-11; online 2023-02-11]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Responses of carbapenemase-producing and non-producing carbapenem-resistant Pseudomonas aeruginosa strains to meropenem revealed by quantitative tandem mass spectrometry proteomics.
Salvà-Serra F, Jaén-Luchoro D, Marathe NP, ..., Moore ERB, Karlsson R
Front Microbiol 13 (-) 1089140 [2023-02-09; online 2023-02-09]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service]
PubMed DOI Crossref
Combinatory analysis of immune cell subsets and tumor-specific genetic variants predict clinical response to PD-1 blockade in patients with non-small cell lung cancer.
Dutta N, Rohlin A, Eklund EA, ..., Hallqvist A, Raghavan S
Front Oncol 12 (-) 1073457 [2023-02-09; online 2023-02-09]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Plasma Concentrations of Gut Hormones Acyl Ghrelin and Peptide YY and Subsequent Risk of Colorectal Cancer and Molecular Tumor Subtypes.
Bodén S, Harbs J, Sundkvist A, ..., Harlid S, Van Guelpen B
Cancer Prev Res (Phila) 16 (2) 75-87 [2023-02-06; online 2022-11-12]
Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]
PubMed DOI Crossref
Immune-Activated B Cells Are Dominant in Prostate Cancer.
Saudi A, Banday V, Zirakzadeh AA, ..., Winqvist O, Sherif A
Cancers (Basel) 15 (3) - [2023-02-01; online 2023-02-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
Inactivation of RB1, CDKN2A, and TP53 have distinct effects on genomic stability at side-by-side comparison in karyotypically normal cells.
Andersson N, Saba KH, Magnusson L, ..., Nord KH, Gisselsson D
Genes Chromosomes Cancer 62 (2) 93-100 [2023-02-00; online 2022-09-30]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Benchmarking of two bioinformatic workflows for the analysis of whole-genome sequenced Staphylococcus aureus collected from patients with suspected sepsis.
Shemirani MI, Tilevik D, Tilevik A, ..., Enroth H, Pernestig AK
BMC Infect. Dis. 23 (1) 39 [2023-01-20; online 2023-01-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Single-cell analysis of myeloid cells in HPV+ tonsillar cancer.
Jimenez DG, Altunbulakli C, Swoboda S, ..., Greiff L, Lindstedt M
Front Immunol 13 (-) 1087843 [2023-01-19; online 2023-01-19]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Lund [Service]
DOI Crossref
MOXD1 is a gate-keeper of organ homeostasis and functions as a tumor-suppressor in neuroblastoma
Fredlund E, Andersson S, Hilgert E, ..., van Nes J, Mohlin S
- - (-) - [2023-01-19; online 2023-01-19]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
Young C, Batkovskyte D, Kitamura M, ..., Grigelioniene G, Kobayashi T
HGG Adv 4 (1) 100148 [2023-01-12; online 2022-10-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia.
Krstic A, Rezayee F, Saft L, ..., Svenberg P, Barbany G
Front Pediatr 10 (-) 1082986 [2023-01-10; online 2023-01-10]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Early response evaluation by single cell signaling profiling in acute myeloid leukemia.
Tislevoll BS, Hellesøy M, Fagerholt OHE, ..., Blaser N, Gjertsen BT
Nat Commun 14 (1) 115 [2023-01-07; online 2023-01-07]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Extracellular Galectin 4 Drives Immune Evasion and Promotes T-cell Apoptosis in Pancreatic Cancer.
Lidström T, Cumming J, Gaur R, ..., Patthey C, Öhlund D
Cancer Immunol Res 11 (1) 72-92 [2023-01-03; online 2022-12-09]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
The injury-induced transcription factor SOX9 alters the expression of LBR, HMGA2, and HIPK3 in the human kidney.
Kha M, Krawczyk K, Choong OK, ..., Swärd K, Johansson ME
Am. J. Physiol. Renal Physiol. 324 (1) F75-F90 [2023-01-01; online 2022-12-01]
Clinical Genomics [['Service', 'Service']] Clinical Genomics Gothenburg [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Nuclear and mitochondrial DNA alterations in pheochromocytomas and paragangliomas, and their potential treatment.
Tabebi M, Söderkvist P, Gimm O
Endocr. Relat. Cancer 30 (1) - [2023-01-01; online 2022-12-08]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative]
PubMed DOI Crossref
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.
Borgström EW, Edvinsson M, Pérez LP, ..., Brodin P, Bergman P
J Clin Immunol 43 (1) 136-150 [2023-01-00; online 2022-09-02]
Bioinformatics Support for Computational Resources [Service] Cellular Immunomonitoring [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy.
Eriksson D, Gyll D, Virtanen M, ..., Klar J, Stattin EL
JAAD Case Rep 31 (-) 133-136 [2023-01-00; online 2022-12-01]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, ..., Hoogerbrugge N, Oliveira C
Lancet Oncol 24 (1) 91-106 [2023-01-00; online 2022-11-24]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Cerebral small vessel disease: Recent advances and future directions.
Markus HS, de Leeuw FE
Int J Stroke 18 (1) 4-14 [2023-01-00; online 2022-12-29]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A comprehensive characterization of patients diagnosed with post-COVID-19 condition in Sweden 16 months after the introduction of the International Classification of Diseases Tenth Revision diagnosis code (U09.9): a population-based cohort study.
Bygdell M, Leach S, Lundberg L, ..., Gisslén M, Nyberg F
Int J Infect Dis 126 (-) 104-113 [2023-01-00; online 2022-11-21]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
DOI Crossref
Building a precision medicine infrastructure at a national level: The Swedish experience
Edsjö A, Lindstrand A, Gisselsson D, ..., Fioretos T, Rosenquist R
Camb. prisms Precis. med. 1 (-) - [2023-00-00; online 2023-02-27]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]

Year 2022

PubMed DOI Crossref
Developmental cues license megakaryocyte priming in murine hematopoietic stem cells.
Kristiansen TA, Zhang Q, Vergani S, ..., Ungerbäck J, Yuan J
Blood Adv 6 (24) 6228-6241 [2022-12-27; online 2022-05-19]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Matched Analyses of Brain Metastases versus Primary Non-Small Cell Lung Cancer Reveal a Unique microRNA Signature.
Tsakonas G, Koulouris A, Kazmierczak D, ..., Hydbring P, Ekman S
Int J Mol Sci 24 (1) - [2022-12-22; online 2022-12-22]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani L, Cools M, Ioakim S, ..., Vezzoli V, Rossetti R
Endocr Connect 11 (12) - [2022-12-01; online 2022-11-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Sequence-based genotyping of extra-intestinal pathogenic Escherichia coli isolates from patients with suspected community-onset sepsis, Sweden.
Tilevik D, Pernestig AK, Fagerlind M, ..., Johansson M, Enroth H
Microb Pathog 173 (Pt A) 105836 [2022-12-00; online 2022-10-17]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Fusion transcript analysis reveals slower response kinetics than multiparameter flow cytometry in childhood acute myeloid leukaemia.
Karlsson L, Nyvold CG, Soboli A, ..., Abrahamsson J, Fogelstrand L
Int J Lab Hematol 44 (6) 1094-1101 [2022-12-00; online 2022-08-02]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Comparison of ROS1-rearrangement detection methods in a cohort of surgically resected non-small cell lung carcinomas.
Thurfjell V, Micke P, Yu H, ..., Goldmann T, Mattsson JSM
Transl Lung Cancer Res 11 (12) 2477-2494 [2022-12-00; online 2023-01-14]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Characterization of a Clostridioides difficile outbreak caused by PCR ribotype 046, associated with increased mortality.
Magnusson C, Mernelius S, Bengnér M, ..., Forshell S, Matussek A
Emerg Microbes Infect 11 (1) 850-859 [2022-12-00; online 2022-03-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Self-reported symptom severity, general health, and impairment in post-acute phases of COVID-19: retrospective cohort study of Swedish public employees.
Larsson SB, von Feilitzen GS, Andersson ME, ..., Nilsson S, Sigström R
Sci Rep 12 (1) 19818 [2022-11-17; online 2022-11-17]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
Hedberg-Oldfors C, Elíasdóttir Ó, Geijer M, Lindberg C, Oldfors A
BMC Neurol 22 (1) 428 [2022-11-15; online 2022-11-15]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Dietary restriction and medical therapy drive PPARα-regulated improvements in early diabetic kidney disease in male rats.
Martin WP, Nair M, Chuah YHD, ..., le Roux CW, Docherty NG
Clin Sci (Lond) 136 (21) 1485-1511 [2022-11-11; online 2022-10-20]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Swedish NMR Centre (SNC) [Collaborative]
PubMed DOI Crossref
A new cut&run low volume-urea (LoV-U) protocol optimized for transcriptional co-factors uncovers Wnt/b-catenin tissue-specific genomic targets.
Zambanini G, Nordin A, Jonasson M, Pagella P, Cantù C
Development - (-) - [2022-11-10; online 2022-11-10]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
Vallera RD, Ding Y, Hatanpaa KJ, ..., Dahia PLM, Ghayee HK
Front Endocrinol (Lausanne) 13 (-) 1024108 [2022-11-07; online 2022-11-07]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
The ESSENCE-Questionnaire in Medical Records Screening for Neurodevelopmental Symptoms/Problems: Utility and Clinical Validity.
Landgren V, Raanan Soltis Z, Svensson E, ..., Landgren M, Knez R
Neuropsychiatr Dis Treat 18 (-) 2559-2574 [2022-11-03; online 2022-11-03]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Novel TPR::ROS1 Fusion Gene Activates MAPK, PI3K and JAK/STAT Signaling in an Infant-type Pediatric Glioma.
Deland L, Keane S, Bontell TO, ..., Sabel M, Abel F
Cancer Genomics Proteomics 19 (6) 711-726 [2022-11-01; online 2022-11-01]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Omicron sublineage BA.2.75.2 exhibits extensive escape from neutralising antibodies.
Sheward DJ, Kim C, Fischbach J, ..., Peacock TP, Murrell B
Lancet Infect Dis 22 (11) 1538-1540 [2022-11-00; online 2022-10-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, ..., Pettersson M, Nordgren A
Genet Med 24 (11) 2296-2307 [2022-11-00; online 2022-09-06]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
GyrB in silico mining in 27 151 global gonococcal genomes from 1928-2021 combined with zoliflodacin in vitro testing of 71 international gonococcal isolates with different GyrB, ParC and ParE substitutions confirms high susceptibility.
Golparian D, Jacobsson S, Sánchez-Busó L, ..., Ohnishi M, Unemo M
J. Antimicrob. Chemother. - (-) - [2022-10-29; online 2022-10-29]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Clinically relevant treatment of PDX models reveals patterns of neuroblastoma chemoresistance.
Mañas A, Aaltonen K, Andersson N, ..., Gisselsson D, Bexell D
Sci Adv 8 (43) eabq4617 [2022-10-28; online 2022-10-28]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Next-Generation Sequencing Analysis of CpG Methylation of a Tumor Suppressor Gene SHP-1 Promoter in Stable Cell Lines and HCV-Positive Patients.
Devi P, Engdahl K, Punga T, Bergqvist A
Viruses 14 (11) - [2022-10-26; online 2022-10-26]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
SARS-CoV-2 variants of concern and spike protein mutational dynamics in a Swedish cohort during 2021, studied by Nanopore sequencing.
Mannsverk S, Bergholm J, Palanisamy N, ..., Lindh J, Lennerstrand J
Virol J 19 (1) 164 [2022-10-18; online 2022-10-18]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Assessment of the genetic and clinical determinants of hip fracture risk: Genome-wide association and Mendelian randomization study.
Nethander M, Coward E, Reimann E, ..., Hveem K, Ohlsson C
Cell Reports Medicine 3 (10) 100776 [2022-10-18; online 2022-10-20]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Engineering human mini-bones for the standardized modeling of healthy hematopoiesis, leukemia, and solid tumor metastasis.
Grigoryan A, Zacharaki D, Balhuizen A, ..., Bexell D, Bourgine PE
Sci Transl Med 14 (666) eabm6391 [2022-10-12; online 2022-10-12]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
DNA promoter hypermethylation of melanocyte lineage genes determines melanoma phenotype.
Sanna A, Phung B, Mitra S, ..., Pietras K, Jönsson G
JCI Insight 7 (19) - [2022-10-10; online 2022-10-10]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
The oncogenic transcription factor FOXQ1 is a differential regulator of Wnt target genes.
Pizzolato G, Moparthi L, Söderholm S, Cantù C, Koch S
J. Cell. Sci. 135 (19) - [2022-10-01; online 2022-10-10]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Parvimonas micra is associated with tumour immune profiles in molecular subtypes of colorectal cancer.
Löwenmark T, Li X, Löfgren-Burström A, ..., Edin S, Palmqvist R
Cancer Immunol. Immunother. 71 (10) 2565-2575 [2022-10-00; online 2022-03-17]
Affinity Proteomics Uppsala [Service] Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
Implementing precision medicine in a regionally organized healthcare system in Sweden.
Fioretos T, Wirta V, Cavelier L, ..., Edsjö A, Rosenquist R
Nat. Med. 28 (10) 1980-1982 [2022-10-00; online 2022-09-20]
Clinical Genomics [['Collaborative', 'Service', 'Collaborative', 'Collaborative', 'Service']] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium.
Engvall M, Karlsson Y, Kuchinskaya E, ..., Cammenga J, Baliakas P
Leuk. Lymphoma 63 (10) 2311-2320 [2022-10-00; online 2022-05-09]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia.
Pilheden M, Ahlgren L, Hyrenius-Wittsten A, ..., Gawad C, Hagström-Andersson AK
Hemasphere 6 (10) e785 [2022-10-00; online 2022-09-30]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Bacteraemia and infective endocarditis with Streptococcus bovis-Streptococcus equinus-complex: a retrospective cohort study.
Öberg J, Nilson B, Gilje P, Rasmussen M, Inghammar M
Infect Dis (Lond) 54 (10) 760-765 [2022-10-00; online 2022-06-22]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.
Winbo A, Diamant UB, Persson J, Jensen SM, Rydberg A
J Am Heart Assoc 11 (18) e025981 [2022-09-20; online 2022-09-14]
Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation.
Djos A, Treis D, Fransson S, ..., Kogner P, Martinsson T
Diagnostics 12 (9) - [2022-09-19; online 2022-09-19]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Treatment of periprosthetic joint infections guided by minimum biofilm eradication concentration (MBEC) in addition to minimum inhibitory concentration (MIC): protocol for a prospective randomised clinical trial.
Tillander JAN, Rilby K, Svensson Malchau K, ..., Rolfson O, Trobos M
BMJ Open 12 (9) e058168 [2022-09-15; online 2022-09-15]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Complete Reference Genome Sequence of the Extensively Drug-Resistant Strain Neisseria gonorrhoeae AT159, with Ceftriaxone Resistance and High-Level Azithromycin Resistance, Using Nanopore Q20+ Chemistry and Illumina Sequencing.
Golparian D, Pleininger S, Jacobsson S, Indra A, Unemo M
Microbiol Resour Announc 11 (9) e0074422 [2022-09-15; online 2022-08-25]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease.
Pircs K, Drouin-Ouellet J, Horváth V, ..., Barker RA, Jakobsson J
Brain 145 (9) 3035-3057 [2022-09-14; online 2021-12-23]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, ..., Campeau PM, Escayg A
Brain - (-) - [2022-09-08; online 2022-09-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages.
Nilsson T, Waraky A, Östlund A, ..., Abrahamsson J, Palmqvist L
Int. J. Cancer 151 (5) 770-782 [2022-09-01; online 2022-06-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Technology development] Clinical Genomics Gothenburg [Technology development]
PubMed DOI Crossref
Microbial and human transcriptome in vaginal fluid at midgestation: Association with spontaneous preterm delivery.
Wikström T, Abrahamsson S, Bengtsson-Palme J, ..., Valentin L, Hagberg H
Clin Transl Med 12 (9) e1023 [2022-09-00; online 2022-09-15]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Glioblastoma CD105+ cells define a SOX2- cancer stem cell-like subpopulation in the pre-invasive niche.
Li J, Ek F, Olsson R, Belting M, Bengzon J
Acta Neuropathol Commun 10 (1) 126 [2022-08-29; online 2022-08-29]
Chemical Biology Consortium Sweden (CBCS) [Collaborative] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Methylation associated with long- or short-term survival in glioblastoma patients from the Nordic phase 3 trial.
Łysiak M, Das J, Malmström A, Söderkvist P
Front Genet 13 (-) 934519 [2022-08-25; online 2022-08-25]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Scarf enables a highly memory-efficient analysis of large-scale single-cell genomics data.
Dhapola P, Rodhe J, Olofzon R, ..., Soneji S, Karlsson G
Nat Commun 13 (1) 4616 [2022-08-08; online 2022-08-08]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, ..., Maroofian R, Platzer K
Am. J. Hum. Genet. 109 (8) 1421-1435 [2022-08-04; online 2022-07-12]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Zhang Q, Matuozzo D, Le Pen J, ..., Cobat A, Casanova JL
J. Exp. Med. 219 (8) - [2022-08-01; online 2022-06-16]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy.
Viberg A, Westin IM, Golovleva I, Byström B
Acta Ophthalmol 100 (5) 541-548 [2022-08-00; online 2021-10-13]
Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting.
Pandzic T, Ladenvall C, Engvall M, ..., Ljungström V, Baliakas P
Hemasphere 6 (8) e761 [2022-08-00; online 2022-08-02]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Combining biomarker and virus phylogenetic models improves HIV-1 epidemiological source identification.
Lundgren E, Romero-Severson E, Albert J, Leitner T
PLoS Comput. Biol. 18 (8) e1009741 [2022-08-00; online 2022-08-26]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genomic surveillance and antimicrobial resistance in Neisseria gonorrhoeae isolates in Bangkok, Thailand in 2018.
Golparian D, Kittiyaowamarn R, Paopang P, ..., Wi T, Unemo M
J. Antimicrob. Chemother. 77 (8) 2171-2182 [2022-07-28; online 2022-05-12]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup.
Martinez-Monleon A, Kryh Öberg H, Gaarder J, ..., Fransson S, Martinsson T
Sci Rep 12 (1) 12420 [2022-07-20; online 2022-07-20]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays.
Chen L, Eriksson A, Weström S, ..., Cavelier L, Landegren U
Nat Commun 13 (1) 4033 [2022-07-12; online 2022-07-12]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study.
Arthur C, Rezayee F, Mogensen N, ..., Tham E, Barbany G
Front Oncol 12 (-) 899325 [2022-07-05; online 2022-07-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
Campbell TM, Liu Z, Zhang Q, ..., Meyts I, Bryceson YT
J. Exp. Med. 219 (7) - [2022-07-04; online 2022-06-07]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genomic profile - a possible diagnostic and prognostic marker in upper tract urothelial carcinoma.
Grahn A, Eisfeldt J, Malm C, ..., Tham E, Brehmer M
BJU Int. 130 (1) 92-101 [2022-07-00; online 2021-08-29]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Cross-sectional associations between the gut microbe Ruminococcus gnavus and features of the metabolic syndrome.
Grahnemo L, Nethander M, Coward E, ..., Hveem K, Ohlsson C
Lancet Diabetes Endocrinol 10 (7) 481-483 [2022-07-00; online 2022-06-01]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy.
Voso MT, Pandzic T, Falconi G, ..., Fabiani E, Baliakas P
Br. J. Haematol. 198 (1) 103-113 [2022-07-00; online 2022-03-11]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
DOI Crossref
Molecular International Prognostic Scoring System for Myelodysplastic Syndromes
Bernard E, Tuechler H, Greenberg PL, ..., Hellström-Lindberg E, Papaemmanuil E
NEJM Evidence 1 (7) - [2022-06-28; online 2022-06-28]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Immunological differences between heart- and kidney-transplanted children: a cross-sectional study.
Ekman-Joelsson BM, Brandström P, Allén M, ..., Mellgren K, Ekwall O
Cardiol Young - (-) 1-6 [2022-06-24; online 2022-06-24]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Evaluation of within-host evolution of methicillin-resistant Staphylococcus aureus (MRSA) by comparing cgMLST and SNP analysis approaches.
Lagos AC, Sundqvist M, Dyrkell F, ..., Söderquist B, Mölling P
Sci Rep 12 (1) 10541 [2022-06-22; online 2022-06-22]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.
Lindelöf H, Horemuzova E, Voss U, ..., Grigelioniene G, Hammarsjö A
Front Endocrinol (Lausanne) 13 (-) 862908 [2022-06-13; online 2022-06-13]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
LymphoTrack Is Equally Sensitive as PCR GeneScan and Sanger Sequencing for Detection of Clonal Rearrangements in ALL Patients.
Paulsen K, Marincevic M, Cavelier L, Hollander P, Amini RM
Diagnostics 12 (6) - [2022-06-04; online 2022-06-04]
Clinical Genomics [Technology development] Clinical Genomics Uppsala [Technology development]
PubMed DOI Crossref
Secondary resistance to idelalisib is characterized by upregulation of IGF1R rather than by MAPK/ERK pathway mutations.
Tausch E, Ljungström V, Agathangelidis A, ..., Rosenquist R, Stilgenbauer S
Blood 139 (22) 3340-3344 [2022-06-02; online 2022-04-05]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
C1QTNF3 is Upregulated During Subcutaneous Adipose Tissue Remodeling and Stimulates Macrophage Chemotaxis and M1-Like Polarization.
Micallef P, Vujičić M, Wu Y, ..., Cardell SL, Wernstedt Asterholm I
Front Immunol 13 (-) 914956 [2022-06-02; online 2022-06-02]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Mutation in the TACI gene and autoimmune neutropenia: A case report.
Bergman P, Broliden PA, Ratcliffe P, ..., Höglund P, Palmblad J
Am. J. Hematol. 97 (6) E207-E210 [2022-06-01; online 2022-03-26]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Identification of Antibiotic Resistance Proteins via MiCId's Augmented Workflow. A Mass Spectrometry-Based Proteomics Approach.
Alves G, Ogurtsov A, Karlsson R, ..., Moore ERB, Yu YK
J. Am. Soc. Mass Spectrom. 33 (6) 917-931 [2022-06-01; online 2022-05-02]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Glycoproteomics and MS Proteomics [Service]
PubMed DOI Crossref
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H
Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]
Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development]
PubMed DOI Crossref
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Johansson J, Frykholm C, Ericson K, ..., Bondeson ML, Wilbe M
Am. J. Med. Genet. A 188 (6) 1676-1687 [2022-06-00; online 2022-02-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Extensively drug-resistant (XDR) Neisseria gonorrhoeae causing possible gonorrhoea treatment failure with ceftriaxone plus azithromycin in Austria, April 2022.
Pleininger S, Indra A, Golparian D, ..., Heidler S, Unemo M
Euro Surveill. 27 (24) - [2022-06-00; online 2022-06-18]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Childhood overweight and risk of obesity-related adult cancer in men.
Célind J, Bygdell M, Martikainen J, Ohlsson C, Kindblom JM
Cancer Commun (Lond) 42 (6) 576-579 [2022-06-00; online 2022-04-08]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Sorafenib and nitazoxanide disrupt mitochondrial function and inhibit regrowth capacity in three-dimensional models of hepatocellular and colorectal carcinoma.
Ek F, Blom K, Selvin T, ..., Jarvius M, Fryknäs M
Sci Rep 12 (1) 8943 [2022-05-27; online 2022-05-27]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Concurrent stem- and lineage-affiliated chromatin programs precede hematopoietic lineage restriction.
Safi F, Dhapola P, Warsi S, ..., Thakur RK, Karlsson G
Cell Rep 39 (6) 110798 [2022-05-10; online 2022-05-12]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Birth weight and young adult body mass index for predicting the risk of developing adult heart failure in men.
Bygdell M, Ohlsson C, Lilja L, ..., Rosengren A, Kindblom JM
Eur J Prev Cardiol 29 (6) 971-978 [2022-05-06; online 2021-12-16]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Stratification of COVID-19 patients based on quantitative immune-related gene expression in whole blood
Persson J, Andersson B, van Veen S, ..., Andersson LM, Harandi AM
Mol. Immunol. 145 (-) 17-26 [2022-05-00; online 2022-05-00]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Polymorphisms in alpha 7 nicotinic acetylcholine receptor gene, CHRNA7, and its partially duplicated gene, CHRFAM7A, associate with increased inflammatory response in human peripheral mononuclear cells.
Pattanaik B, Hammarlund M, Mjörnstedt F, ..., Bergström G, Johansson ME
FASEB J. 36 (5) e22271 [2022-05-00; online 2022-03-29]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Evolution, geographic spreading, and demographic distribution of Enterovirus D68.
Hodcroft EB, Dyrdak R, Andrés C, ..., Neher RA, Albert J
PLoS Pathog. 18 (5) e1010515 [2022-05-00; online 2022-05-31]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
"Randomized phase II study of azacitidine ± lenalidomide in higher-risk myelodysplastic syndromes and acute myeloid leukemia with a karyotype including Del(5q)".
Rasmussen B, Göhring G, Bernard E, ..., Möllgård L, Hellström-Lindberg E
Leukemia 36 (5) 1436-1439 [2022-05-00; online 2022-03-11]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Pharmacodynamic Evaluation of Zoliflodacin Treatment of Neisseria gonorrhoeae Strains With Amino Acid Substitutions in the Zoliflodacin Target GyrB Using a Dynamic Hollow Fiber Infection Model.
Jacobsson S, Golparian D, Oxelbark J, ..., Drusano G, Unemo M
Front Pharmacol 13 (-) 874176 [2022-04-14; online 2022-04-14]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs
Framme JL, Lundqvist C, Lundell AC, ..., Oskarsdóttir S, Ekwall O
J Clin Immunol 42 (3) 618-633 [2022-04-00; online 2022-01-26]
Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
ADP-ribosylating adjuvant reveals plasticity in cDC1 cells that drive mucosal Th17 cell development and protection against influenza virus infection.
Arabpour M, Lebrero-Fernandez C, Schön K, ..., Agace W, Lycke N
Mucosal Immunol 15 (4) 745-761 [2022-04-00; online 2022-04-13]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias.
Berglund E, Barbany G, Orsmark-Pietras C, ..., Fioretos T, Rosenquist R
Front Med (Lausanne) 9 (-) 842507 [2022-03-24; online 2022-03-24]
Clinical Genomics [['Collaborative', 'Collaborative', 'Collaborative', 'Service']] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Deficits in attention, motor control and perception childhood to age 30 years: prospective case-control study of outcome predictors.
Landgren V, Fernell E, Gillberg C, Landgren M, Johnson M
BMJ Open 12 (3) e054424 [2022-03-17; online 2022-03-17]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Single-cell transcriptional profiling informs efficient reprogramming of human somatic cells to cross-presenting dendritic cells.
Rosa FF, Pires CF, Kurochkin I, ..., Scheding S, Pereira CF
Sci Immunol 7 (69) eabg5539 [2022-03-04; online 2022-03-04]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Optimization of cerebrospinal fluid microbial DNA metagenomic sequencing diagnostics.
Olausson J, Brunet S, Vracar D, ..., Jakobsson HE, Tang K
Sci Rep 12 (1) 3378 [2022-03-01; online 2022-03-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Loss of Y and clonal hematopoiesis in blood-two sides of the same coin?
Ljungström V, Mattisson J, Halvardson J, ..., Baliakas P, Forsberg LA
Leukemia 36 (3) 889-891 [2022-03-00; online 2021-11-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
In-Flight Transmission of a SARS-CoV-2 Lineage B.1.617.2 Harbouring the Rare S:E484Q Immune Escape Mutation.
Martinell M, Andersson T, Mannsverk SS, ..., Lindh J, Kaden R
Viruses 14 (3) - [2022-02-28; online 2022-02-28]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
TC-hunter: identification of the insertion site of a transgenic gene within the host genome.
Börjesson V, Martinez-Monleon A, Fransson S, ..., Milosevic J, López MD
BMC Genomics 23 (1) 149 [2022-02-20; online 2022-02-20]
Clinical Genomics [Technology development] Clinical Genomics Gothenburg [Technology development]
PubMed DOI Crossref
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S, Zhang Y, Hallgrimsdottir S, ..., Grigelioniene G, Wu N
npj Genom. Med. 7 (1) 11 [2022-02-15; online 2022-02-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Scavenger receptor CD36 governs recruitment of myeloid cells to the blood-CSF barrier after stroke in neonatal mice.
Rayasam A, Mottahedin A, Faustino J, Mallard C, Vexler ZS
J Neuroinflammation 19 (1) 47 [2022-02-11; online 2022-02-11]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
PΨFinder: a practical tool for the identification and visualization of novel pseudogenes in DNA sequencing data.
Abrahamsson S, Eiengård F, Rohlin A, Dávila López M
BMC Bioinformatics 23 (1) 59 [2022-02-03; online 2022-02-03]
Clinical Genomics [Technology development] Clinical Genomics Gothenburg [Technology development]
PubMed DOI Crossref
Pyruvate metabolism guides definitive lineage specification during hematopoietic emergence.
Oburoglu L, Mansell E, Canals I, ..., Soneji S, Woods NB
EMBO Rep. 23 (2) e54384 [2022-02-03; online 2021-12-16]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
Thomsen C, Malfatti E, Jovanovic A, ..., Lindberg C, Oldfors A
Neuropathol Appl Neurobiol 48 (1) e12761 [2022-02-00; online 2021-09-12]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service] Integrated Microscopy Technologies Gothenburg [Service]
PubMed DOI Crossref
Genetically proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers: A mendelian randomization analysis.
Yarmolinsky J, Díez-Obrero V, Richardson TG, ..., Martin RM, Moreno V
PLoS Med. 19 (2) e1003897 [2022-02-00; online 2022-02-03]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
Clinical and biological relevance of the transcriptomic-based prostate cancer metastasis subtypes MetA-C.
Thysell E, Köhn L, Semenas J, ..., Bergh A, Wikström P
Mol Oncol 16 (4) 846-859 [2022-02-00; online 2021-12-27]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.
Chibani Z, Abid IZ, Söderkvist P, Feki J, Aifa MH
Br J Ophthalmol 106 (2) 281-287 [2022-02-00; online 2021-04-20]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Medications Activating Tubular Fatty Acid Oxidation Enhance the Protective Effects of Roux-en-Y Gastric Bypass Surgery in a Rat Model of Early Diabetic Kidney Disease.
Martin WP, Chuah YHD, Abdelaal M, ..., le Roux CW, Docherty NG
Front Endocrinol (Lausanne) 12 (-) 757228 [2022-01-26; online 2022-01-26]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Swedish NMR Centre (SNC) [Service]
PubMed DOI Crossref
First National Genomic Epidemiological Study of Neisseria gonorrhoeae Strains Spreading Across Sweden in 2016.
Hadad R, Golparian D, Velicko I, ..., Engstrand L, Unemo M
Front Microbiol 12 (-) 820998 [2022-01-13; online 2022-01-13]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression.
Stratmann S, Yones SA, Garbulowski M, ..., Komorowski J, Holmfeldt L
Blood Adv 6 (1) 152-164 [2022-01-11; online 2021-10-08]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.
Tabebi M, Łysiak M, Dutta RK, ..., Gimm O, Söderkvist P
Cancers (Basel) 14 (2) - [2022-01-06; online 2022-01-06]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development.
Johansson PA, Brattås PL, Douse CH, ..., Eichler EE, Jakobsson J
Cell Stem Cell 29 (1) 52-69.e8 [2022-01-06; online 2021-10-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS.
Tabebi M, Kumar Dutta R, Skoglund C, Söderkvist P, Gimm O
Int J Mol Sci 23 (1) - [2022-01-05; online 2022-01-05]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology.
Skaftason A, Qu Y, Abdulla M, ..., Rosenquist R, Mansouri L
Genes Chromosomes Cancer 61 (1) 27-36 [2022-01-00; online 2021-10-23]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Short read [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Sustained Response to Entrectinib in an Infant With a Germline ALKAL2 Variant and Refractory Metastatic Neuroblastoma With Chromosomal 2p Gain and Anaplastic Lymphoma Kinase and Tropomyosin Receptor Kinase Activation.
Treis D, Umapathy G, Fransson S, ..., Martinsson T, Kogner P
JCO Precision Oncology 6 (6) e2100271 [2022-01-00; online 2022-01-28]
Clinical Genomics [['Service', 'Service']] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Amplification of ERBB2 (HER2) in embryonal rhabdomyosarcoma: A potential treatment target in rare cases?
Mitra S, Sydow S, Magnusson L, ..., Gisselsson D, Mertens F
Genes Chromosomes Cancer 61 (1) 5-9 [2022-01-00; online 2021-09-01]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A genome-wide scan to locate regions associated with familial vesicoureteral reflux.
Bartik Z, Sillén U, Östensson M, ..., Sjöberg R, Martinsson T
Exp Ther Med 23 (1) 92 [2022-01-00; online 2021-11-28]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
DOI Crossref
<i>Streptococcus bovis</i>-bacteremia: subspecies distribution and association with colorectal cancer: a retrospective cohort study
Öberg J, Rasmussen M, Buchwald P, Nilson B, Inghammar M
Epidemiol. Infect. 150 (-) - [2022-00-00; online 2021-11-26]
Clinical Genomics [Service] Clinical Genomics Lund [Service]

Year 2021

PubMed DOI Crossref
CD105+CD90+CD13+ identifies a clonogenic subset of adventitial lung fibroblasts.
Kadefors M, Rolandsson Enes S, Åhrman E, ..., Scheding S, Westergren-Thorsson G
Sci Rep 11 (1) 24417 [2021-12-24; online 2021-12-24]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Childhood Kaposi sarcoma related to hypomorphic severe combined immunodeficiency caused by a novel CORO1A mutation.
Muleviciene A, Sekine T, Zondag T, ..., Tesi B, Rascon J
Pediatr Blood Cancer - (-) e29487 [2021-12-16; online 2021-12-16]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Early Pregnancy Exposure to Ambient Air Pollution among Late-Onset Preeclamptic Cases Is Associated with Placental DNA Hypomethylation of Specific Genes and Slower Placental Maturation.
Engström K, Mandakh Y, Garmire L, ..., Erlandsson L, Hansson SR
Toxics 9 (12) 338 [2021-12-06; online 2021-12-06]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Whitman MC, Barry BJ, Robson CD, ..., Manoli I, Engle EC
Hum Genet 140 (12) 1709-1731 [2021-12-00; online 2021-10-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report.
Hussein D, Olsson C, Lagerstedt-Robinson K, Moreira T
Neurol Genet 7 (6) e625 [2021-12-00; online 2021-09-14]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Global phylogeny of Treponema pallidum lineages reveals recent expansion and spread of contemporary syphilis.
Beale MA, Marks M, Cole MJ, ..., Fifer H, Thomson NR
Nat Microbiol 6 (12) 1549-1560 [2021-12-00; online 2021-11-24]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant.
Paucar M, Tesi B, Eshtad S, ..., Bryceson YT, Svenningsson P
Neurol Genet 7 (6) e628 [2021-12-00; online 2021-10-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Interplay between copy number alterations and immune profiles in the early breast cancer Scandinavian Breast Group 2004-1 randomized phase II trial: results from a feasibility study.
Zerdes I, Simonetti M, Matikas A, ..., Crosetto N, Foukakis T
NPJ Breast Cancer 7 (1) 144 [2021-11-19; online 2021-11-19]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic Characterization of Staphylococcus aureus From Subclinical Mastitis Cases in Dairy Cows in Rwanda.
Ndahetuye JB, Leijon M, Båge R, Artursson K, Persson Y
Front Vet Sci 8 (-) 751229 [2021-11-18; online 2021-11-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Limited benefit in patients with MDS receiving venetoclax and azacitidine as a bridge to allogeneic stem cell transplantation.
Jädersten M, Boriskina K, Lindholm C, ..., Mielke S, Tobiasson M
Leuk. Lymphoma - (-) 1-4 [2021-11-15; online 2021-11-15]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Different Responses to Neoadjuvant Chemotherapy in Urothelial Carcinoma Molecular Subtypes.
Sjödahl G, Abrahamsson J, Holmsten K, ..., Ullén A, Liedberg F
Eur. Urol. - (-) - [2021-11-12; online 2021-11-12]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A comparison of rule-based and centroid single-sample multiclass predictors for transcriptomic classification.
Eriksson P, Marzouka NA, Sjödahl G, ..., Liedberg F, Höglund M
Bioinformatics - (-) - [2021-11-12; online 2021-11-12]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
cGMP-PKG dependent transcriptome in normal and degenerating retinas: Novel insights into the retinitis pigmentosa pathology.
Zhou J, Rasmussen M, Ekström P
Exp. Eye Res. 212 (-) 108752 [2021-11-00; online 2021-08-31]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets.
Rodrigues JM, Porwit A, Hassan M, Ek S, Jerkeman M
Leuk. Lymphoma 62 (11) 2637-2647 [2021-11-00; online 2021-06-03]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Longitudinal study of Staphylococcus aureus genotypes isolated from bovine clinical mastitis.
Leijon M, Atkins E, Persson Waller K, Artursson K
J Dairy Sci 104 (11) 11945-11954 [2021-11-00; online 2021-08-26]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Increased diagnostic sensitivity of palpation-guided thyroid nodule fine-needle aspiration cytology by BRAF V600E-mutation analysis.
Gimm O, Ivansson K, Beka E, ..., Garvin S, Söderkvist P
J Pathol Clin Res 7 (6) 556-564 [2021-11-00; online 2021-06-22]
Clinical Genomics [Collaborative] Clinical Genomics Linköping [Collaborative]
PubMed DOI Crossref
5´XP sRNA-seq: efficient identification of transcripts with and without 5´ phosphorylation reveals evolutionary conserved small RNA.
Kugelberg U, Nätt D, Skog S, Kutter C, Öst A
RNA Biol 18 (11) 1588-1599 [2021-11-00; online 2020-12-31]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
Utredning av den initiala smittspridningen av SARS-CoV-2 till och inom Sverige
Dyrdak R, Albert J
SOU 89 (-) - [2021-10-29]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
Wallander K, Thonberg H, Nilsson D, Tham E
Hered Cancer Clin Pract 19 (1) 46 [2021-10-28; online 2021-10-28]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
Xue JY, Grigelioniene G, Wang Z, ..., Ikegawa S, Guo L
J. Bone Miner. Res. - (-) - [2021-10-20; online 2021-10-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia.
Lilljebjörn H, Orsmark-Pietras C, Mitelman F, Hagström-Andersson A, Fioretos T
Semin. Cancer Biol. - (-) - [2021-10-01; online 2021-10-01]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A, Pettersson M, Chitayat D, ..., Lindstrand A, Grigelioniene G
J. Hum. Genet. 66 (10) 995-1008 [2021-10-00; online 2021-04-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Myelomonocytic Leukemia: Clinical and Molecular Genetic Prognostic Factors in a Nordic Population.
Wedge E, Hansen JW, Dybedal I, ..., Ljungman P, Friis LS
Transplant Cell Ther - (-) - [2021-09-06; online 2021-09-06]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers.
Svensson A, Platonov PG, Haugaa KH, ..., Svendsen JH, Gunnarsson C
Cardiology 146 (6) 763-771 [2021-09-01; online 2021-09-01]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D, ..., Beltran S, Solve-RD Consortia
Eur. J. Hum. Genet. 29 (9) 1337-1347 [2021-09-00; online 2021-06-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genomic and transcriptomic characterization of desmoplastic small round cell tumors.
Sydow S, Versleijen-Jonkers YMH, Hansson M, ..., Flucke UE, Mertens F
Genes Chromosomes Cancer 60 (9) 595-603 [2021-09-00; online 2021-05-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, ..., Verloes A, Vissers LELM
Eur. J. Hum. Genet. 29 (9) 1359-1368 [2021-09-00; online 2021-06-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genomic Epidemiology of Azithromycin-Nonsusceptible Neisseria gonorrhoeae, Argentina, 2005-2019.
Gianecini RA, Poklepovich T, Golparian D, ..., Galarza P, Gonococcal Antimicrobial Susceptibility Surveillance Programme—Argentina1
Emerg. Infect. Dis. 27 (9) 2369-2378 [2021-08-24; online 2021-08-24]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, ..., Zhang Q, Casanova JL
Sci Immunol 6 (62) - [2021-08-19; online 2021-08-21]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Single-cell atlas reveals meningeal leukocyte heterogeneity in the developing mouse brain.
Zelco A, Börjesson V, de Kanter JK, ..., Holstege FCP, Wang X
Genes Dev. 35 (15-16) 1190-1207 [2021-08-01; online 2021-07-22]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Optimization of droplet digital PCR assays for the type-specific detection and quantification of five HPV genotypes, including additional data on viral loads of nine different HPV genotypes in cervical carcinomas.
Malin K, Louise BM, Gisela H, Mats KG, Gabriella L
J Virol Methods 294 (-) 114193 [2021-08-00; online 2021-05-19]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Comparison of RNA- and DNA-based methods for measurable residual disease analysis in NPM1-mutated acute myeloid leukemia.
Pettersson L, Johansson Alm S, Almstedt A, ..., Fogelstrand L, Ehinger M
Int J Lab Hematol 43 (4) 664-674 [2021-08-00; online 2021-05-30]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Co-mutation pattern, clonal hierarchy, and clone size concur to determine disease phenotype of SRSF2P95-mutated neoplasms.
Todisco G, Creignou M, Gallì A, ..., Cazzola M, Malcovati L
Leukemia 35 (8) 2371-2381 [2021-08-00; online 2020-12-21]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Anti-tumor effects of rigosertib in high-risk neuroblastoma.
Radke K, Hansson K, Sjölund J, ..., Gisselsson D, Bexell D
Transl Oncol 14 (8) 101149 [2021-08-00; online 2021-06-09]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Mass Spectrometry Proteotyping-Based Detection and Identification of Staphylococcus aureus, Escherichia coli, and Candida albicans in Blood.
Kondori N, Kurtovic A, Piñeiro-Iglesias B, ..., Moore ERB, Karlsson R
Front. Cell. Infect. Microbiol. 11 (-) 634215 [2021-07-26; online 2021-07-26]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Glycoproteomics and MS Proteomics [Service]
PubMed DOI Crossref
Comparative Genomics of Clinical Isolates of the Emerging Tick-Borne Pathogen Neoehrlichia mikurensis.
Grankvist A, Jaén-Luchoro D, Wass L, Sikora P, Wennerås C
Microorganisms 9 (7) - [2021-07-13; online 2021-07-13]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Liquid biopsy as an option for predictive testing and prognosis in patients with lung cancer.
Qvick A, Stenmark B, Carlsson J, ..., Karlsson C, Helenius G
Mol. Med. 27 (1) 68 [2021-07-03; online 2021-07-03]
Clinical Genomics [Technology development] Clinical Genomics Örebro [Technology development]
PubMed DOI Crossref
Technical in-depth comparison of two massive parallel DNA-sequencing methods for formalin-fixed paraffin-embedded tissue from victims of sudden cardiac death.
Adolfsson E, Qvick A, Gréen H, ..., Jonasson J, Gréen A
Forensic Sci Int Genet 53 (-) 102522 [2021-07-00; online 2021-04-26]
Clinical Genomics [Technology development] Clinical Genomics Örebro [Technology development]
PubMed DOI Crossref
Single‐cell sequencing in translational cancer research and challenges to meet clinical diagnostic needs
Pfisterer U, Bräunig J, Brattås P, ..., Karlsson G, Fioretos T
Genes Chromosomes Cancer 60 (7) 504-524 [2021-07-00; online 2021-03-15]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Lack of diagnostic-escape mutants of group B streptococcus in Slovenia.
Perme T, Golparian D, Unemo M, Jeverica S
Clin. Microbiol. Infect. 27 (7) 1054-1055 [2021-07-00; online 2021-02-02]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Human Primary Airway Basal Cells Display a Continuum of Molecular Phases from Health to Disease in Chronic Obstructive Pulmonary Disease.
Wijk SC, Prabhala P, Michaliková B, ..., Westergren-Thorsson G, Magnusson M
Am J Respir Cell Mol Biol 65 (1) 103-113 [2021-07-00; online 2021-04-01]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Genomic and Phenotypic Evolution of Achromobacter xylosoxidans during Chronic Airway Infections of Patients with Cystic Fibrosis.
Khademi SMH, Gabrielaite M, Paulsson M, ..., Marvig RL, Påhlman LI
mSystems - (-) e0052321 [2021-06-29; online 2021-06-29]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
EBF1 and PAX5 control pro-B cell expansion via opposing regulation of the Myc gene.
Somasundaram R, Jensen CT, Tingvall-Gustafsson J, ..., Ungerbäck J, Sigvardsson M
Blood 137 (22) 3037-3049 [2021-06-03; online 2021-02-24]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
B Lymphocyte Specification Is Preceded by Extensive Epigenetic Priming in Multipotent Progenitors.
Strid T, Okuyama K, Tingvall-Gustafsson J, ..., Ungerbäck J, Sigvardsson M
J. Immunol. 206 (11) 2700-2713 [2021-06-01; online 2021-05-21]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany.
Stenzinger A, Edsjö A, Ploeger C, ..., Rosenquist R, GMS working groups and ZPM working groups
Semin. Cancer Biol. - (-) - [2021-05-24; online 2021-05-24]
Clinical Genomics [['Service', 'Collaborative', 'Collaborative']] Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Pharmacodynamic Evaluation of Dosing, Bacterial Kill, and Resistance Suppression for Zoliflodacin Against Neisseria gonorrhoeae in a Dynamic Hollow Fiber Infection Model.
Jacobsson S, Golparian D, Oxelbark J, ..., Drusano G, Unemo M
Front Pharmacol 12 (-) 682135 [2021-05-21; online 2021-05-21]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Complement-Opsonized HIV Modulates Pathways Involved in Infection of Cervical Mucosal Tissues: A Transcriptomic and Proteomic Study.
Svanberg C, Ellegård R, Crisci E, ..., Shankar EM, Larsson M
Front Immunol 12 (-) 625649 [2021-05-20; online 2021-05-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
X-chromosome variants are associated with aldosterone producing adenomas.
Dutta RK, Larsson M, Arnesen T, ..., Gimm O, Söderkvist P
Sci Rep 11 (1) 10562 [2021-05-18; online 2021-05-18]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed
[Precision diagnostics and therapy in hematological malignancies].
Hellström Lindberg E, Cavelier L, Cammenga J, ..., Fioretos T, Rosenquist R
Lakartidningen 118 (-) - [2021-05-10; online 2021-05-10]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Activation of endogenous retroviruses during brain development causes an inflammatory response.
Jönsson ME, Garza R, Sharma Y, ..., Jern P, Jakobsson J
EMBO J. 40 (9) e106423 [2021-05-03; online 2021-03-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Association between inflammasome-related polymorphisms and psoriatic arthritis.
Juneblad K, Kastbom A, Johansson L, ..., Söderkvist P, Alenius G
Scand. J. Rheumatol. 50 (3) 206-212 [2021-05-00; online 2020-12-10]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Genotypic Characterization of Clinical Klebsiella spp. Isolates Collected From Patients With Suspected Community-Onset Sepsis, Sweden.
Saxenborn P, Baxter J, Tilevik A, ..., Enroth H, Tilevik D
Front Microbiol 12 (-) 640408 [2021-04-30; online 2021-04-30]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Atypical presentation of Neisseria meningitidis serogroup W disease is associated with the introduction of the 2013 strain.
Säll O, Stenmark B, Jacobsson S, ..., Sundqvist M, Mölling P
Epidemiol. Infect. 149 (-) e126 [2021-04-29; online 2021-04-29]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, ..., Bernier RA, Eichler EE
Genome Med 13 (1) 63 [2021-04-19; online 2021-04-19]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A community-driven resource for genomic epidemiology and antimicrobial resistance prediction of Neisseria gonorrhoeae at Pathogenwatch.
Sánchez-Busó L, Yeats CA, Taylor B, ..., Unemo M, Aanensen DM
Genome Med 13 (1) 61 [2021-04-19; online 2021-04-19]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.
Gong B, Li D, Kusko R, ..., Jones W, Xu J
Genome Biol. 22 (1) 109 [2021-04-16; online 2021-04-16]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Correia SP, Moedas MF, Naess K, ..., Wedell A, Wredenberg A
Hum. Mutat. 42 (4) 378-384 [2021-04-00; online 2021-02-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PD-L1 and IDO1 are potential targets for treatment in patients with primary diffuse large B-cell lymphoma of the CNS.
Abdulla M, Alexsson A, Sundström C, ..., Hollander P, Amini RM
Acta Oncol 60 (4) 531-538 [2021-04-00; online 2021-02-12]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, ..., Wedell A, Wredenberg A
Neurol Genet 7 (2) e566 [2021-04-00; online 2021-03-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A modified protein marker panel to identify four consensus molecular subtypes in colorectal cancer using immunohistochemistry.
Li X, Larsson P, Ljuslinder I, ..., Edin S, Palmqvist R
Pathol Res Pract 220 (-) 153379 [2021-04-00; online 2021-03-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]
PubMed DOI Crossref
Deletions on Chromosome Y and Downregulation of the SRY Gene in Tumor Tissue Are Associated with Worse Survival of Glioblastoma Patients.
Łysiak M, Smits A, Roodakker KR, ..., Söderkvist P, Malmström A
Cancers (Basel) 13 (7) - [2021-03-31; online 2021-03-31]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
High-Throughput and Automated Acoustic Trapping of Extracellular Vesicles to Identify microRNAs With Diagnostic Potential for Prostate Cancer.
Ku A, Fredsøe J, Sørensen KD, ..., Lilja H, Ceder Y
Front Oncol 11 (-) 631021 [2021-03-25; online 2021-03-25]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).
Engvall M, Kawasaki A, Carelli V, ..., Wedell A, Träisk F
Front Neurol 12 (-) 652590 [2021-03-25; online 2021-03-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genome-wide methylome analysis of two strains belonging to the hypervirulent Neisseria meningitidis serogroup W ST-11 clonal complex.
Stenmark B, Eriksson L, Thulin Hedberg S, ..., Roberts RJ, Mölling P
Sci Rep 11 (1) 6239 [2021-03-18; online 2021-03-18]
Clinical Genomics [Technology development] Clinical Genomics Örebro [Technology development]
PubMed DOI Crossref
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, ..., Lindstrand A, Wedell A
Genome Med 13 (1) 40 [2021-03-17; online 2021-03-17]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Neisseria gonorrhoeae Sequence Typing for Antimicrobial Resistance (NG-STAR) clonal complexes are consistent with genomic phylogeny and provide simple nomenclature, rapid visualization and antimicrobial resistance (AMR) lineage predictions.
Golparian D, Sánchez-Busó L, Cole M, Unemo M
J. Antimicrob. Chemother. 76 (4) 940-944 [2021-03-12; online 2021-01-08]
Clinical Genomics [Technology development] Clinical Genomics Örebro [Technology development]
PubMed DOI Crossref
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K, Stjernfelt KJ, Kvist A, ..., Olsson H, Øra I
Sci Rep 11 (1) 5307 [2021-03-05; online 2021-03-05]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.
Sutton L, Ljungström V, Enjuanes A, ..., Stamatopoulos K, Rosenquist R
Haematologica 106 (3) 682-691 [2021-03-01; online 2021-03-01]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Challenging conventional karyotyping by next-generation karyotyping in 281 intensively treated patients with AML.
Mareschal S, Palau A, Lindberg J, ..., Grönberg H, Lehmann S
Blood Adv 5 (4) 1003-1016 [2021-02-23; online 2021-02-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Distinct mechanisms of resistance to fulvestrant treatment dictate level of ER independence and selective response to CDK inhibitors in metastatic breast cancer.
Kaminska K, Akrap N, Staaf J, ..., Bosch A, Honeth G
Breast Cancer Res. 23 (1) 26 [2021-02-18; online 2021-02-18]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets.
Stratmann S, Yones SA, Mayrhofer M, ..., Cavelier L, Holmfeldt L
Blood Adv 5 (3) 900-912 [2021-02-09; online 2021-02-10]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
multiclassPairs: An R package to train multiclass pairbased classifier.
Marzouka NA, Eriksson P
Bioinformatics - (-) - [2021-02-05; online 2021-02-05]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.
Wallander K, Eisfeldt J, Lindblad M, ..., Liedén A, Tham E
PLoS ONE 16 (2) e0245488 [2021-02-04; online 2021-02-04]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Sex Disparities in MGMT Promoter Methylation and Survival in Glioblastoma: Further Evidence from Clinical Cohorts.
Smits A, Lysiak M, Magnusson A, ..., Söderkvist P, Malmström A
J Clin Med 10 (4) - [2021-02-03; online 2021-02-03]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Isolation of high-yield and -quality RNA from human precision-cut lung slices for RNA-sequencing and computational integration with larger patient cohorts.
Stegmayr J, Alsafadi HN, Langwiński W, ..., Leigh ND, Wagner DE
Am J Physiol Lung Cell Mol Physiol 320 (2) L232-L240 [2021-02-01; online 2020-10-28]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in the absence of ALK mutation.
Borenäs M, Umapathy G, Lai WY, ..., Hallberg B, Palmer RH
EMBO J. 40 (3) e105784 [2021-02-01; online 2021-01-07]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Glycoproteomics and MS Proteomics [Service]
PubMed DOI Crossref
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor.
Ilinca A, Englund E, Samuelsson S, ..., Lindgren AG, Puschmann A
Neurol Genet 7 (1) e548 [2021-02-00; online 2021-01-21]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Hypoxia inducible factor-2α importance for migration, proliferation, and self-renewal of trunk neural crest cells.
Niklasson CU, Fredlund E, Monni E, ..., Bronner ME, Mohlin S
Dev. Dyn. 250 (2) 191-236 [2021-02-00; online 2020-09-26]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto LD, Meeths M, Campos-Xavier B, ..., Unger S, Superti-Furga A
Am. J. Med. Genet. A 185 (2) 517-527 [2021-02-00; online 2021-01-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Thuresson AC, Croft B, Hailer YD, ..., Harley VR, Stattin EL
Clin. Genet. 99 (2) 325-329 [2021-02-00; online 2020-11-12]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Evaluation of NTRK immunohistochemistry as a screening method for NTRK gene fusion detection in non-small cell lung cancer.
Elfving H, Broström E, Moens LNJ, ..., Botling J, Micke P
Lung Cancer 151 (-) 53-59 [2021-01-00; online 2020-11-27]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
Naess K, Bruhn H, Stranneheim H, ..., Wedell A, von Döbeln U
J Pediatr 228 (-) 240-251.e2 [2021-01-00; online 2020-08-19]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
BL1391: an established cell line from a human malignant peripheral nerve sheath tumor with unique genomic features.
Tolomeo D, Agostini A, Macchia G, ..., Mertens F, Storlazzi CT
Hum Cell 34 (1) 238-245 [2021-01-00; online 2020-08-27]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]

Year 2020

PubMed DOI Crossref
Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
Fransson S, Martinez-Monleon A, Johansson M, ..., Kogner P, Martinsson T
Sci Rep 10 (1) 22432 [2020-12-31; online 2020-12-31]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
Höijer I, Johansson J, Gudmundsson S, ..., Gyllensten U, Ameur A
Genome Biol. 21 (1) 290 [2020-12-01; online 2020-12-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Molecular characteristics of eae-positive clinical Shiga toxin-producing Escherichia coli in Sweden.
Hua Y, Bai X, Zhang J, ..., Wan C, Matussek A
Emerg Microbes Infect 9 (1) 2562-2570 [2020-12-00; online 2020-11-13]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Heterozygous variants in DCC: Beyond congenital mirror movements.
Thams S, Islam M, Lindefeldt M, ..., Nilsson D, Paucar M
Neurol Genet 6 (6) e526 [2020-12-00; online 2020-10-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Associations between serum concentrations of perfluoroalkyl substances and DNA methylation in women exposed through drinking water: A pilot study in Ronneby, Sweden.
Xu Y, Jurkovic-Mlakar S, Lindh CH, ..., Jakobsson K, Engström K
Environ Int 145 (-) 106148 [2020-12-00; online 2020-09-30]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Variations among Viruses in Influent Water and Effluent Water at a Wastewater Plant over One Year as Assessed by Quantitative PCR and Metagenomics.
Wang H, Neyvaldt J, Enache L, ..., Bergstedt O, Norder H
Appl. Environ. Microbiol. 86 (24) - [2020-11-24; online 2020-11-24]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Pontén E, Frisk S, Taylan F, ..., Lagerstedt-Robinson K, Nordgren A
J. Med. Genet. - (-) jmedgenet-2020-107385 [2020-11-18; online 2020-11-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship.
Marzouka NA, Lindgren D, Eriksson P, ..., Axelson H, Höglund M
Sci Rep 10 (1) 19539 [2020-11-11; online 2020-11-11]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
DOI Crossref
DNA-Based Methods for Measurable Residual Disease Detection in NPM1-Mutated Acute Myeloid Leukemia; Establishment of Cut-Offs for qPCR, Digital Droplet PCR and Targeted Deep Sequencing
Pettersson L, Johansson Alm S, Almstedt A, ..., Fogelstrand L, Ehinger M
Blood 136 (Supplement 1) 6-6 [2020-11-05; online 2020-11-05]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Genomic epidemiology of Neisseria gonorrhoeae elucidating the gonococcal antimicrobial resistance and lineages/sublineages across Brazil, 2015-16.
Golparian D, Bazzo ML, Golfetto L, ..., Unemo M, Brazilian-GASP Network
J. Antimicrob. Chemother. 75 (11) 3163-3172 [2020-11-01; online 2020-08-14]
Clinical Genomics [Technology development] Clinical Genomics Örebro [Technology development]
PubMed DOI Crossref
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
Ramos J, Proven M, Halvardson J, ..., Thuresson AC, Fu D
RNA 26 (11) 1654-1666 [2020-11-00; online 2020-08-06]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Stödberg T, Tomson T, Barbaro M, ..., Åmark P, Wedell A
Epilepsia 61 (11) 2486-2499 [2020-11-00; online 2020-09-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Activation of RAS Signalling is Associated with Altered Cell Adhesion in Phaeochromocytoma.
Rossitti HM, Dutta RK, Larsson C, ..., Söderkvist P, Gimm O
Int J Mol Sci 21 (21) 8072 [2020-10-29; online 2020-10-29]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, ..., Xia K, Eichler EE
Nat Commun 11 (1) 4932 [2020-10-01; online 2020-10-01]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes.
Bernard E, Nannya Y, Hasserjian RP, ..., Ogawa S, Papaemmanuil E
Nat. Med. 26 (10) 1549-1556 [2020-10-00; online 2020-08-03]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Geographically widespread invasive meningococcal disease caused by a ciprofloxacin resistant non-groupable strain of the ST-175 clonal complex.
Willerton L, Lucidarme J, Campbell H, ..., Vogel U, Borrow R
J Infect 81 (4) 575-584 [2020-10-00; online 2020-08-25]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Inducible Deletion of YAP and TAZ in Adult Mouse Smooth Muscle Causes Rapid and Lethal Colonic Pseudo-Obstruction.
Daoud F, Holmberg J, Alajbegovic A, ..., Swärd K, Albinsson S
Cellular and Molecular Gastroenterology and Hepatology 11 (2) 623-637 [2020-09-28; online 2020-09-28]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Therapeutic targeting of KSP in preclinical models of high-risk neuroblastoma.
Hansson K, Radke K, Aaltonen K, ..., Gisselsson D, Bexell D
Sci Transl Med 12 (562) - [2020-09-23; online 2020-09-25]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, ..., Ding L, PCAWG Consortium
Nat Commun 11 (1) 4748 [2020-09-21; online 2020-09-21]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Parvimonas micra as a putative non-invasive faecal biomarker for colorectal cancer.
Löwenmark T, Löfgren-Burström A, Zingmark C, ..., Edin S, Palmqvist R
Sci Rep 10 (1) 15250 [2020-09-17; online 2020-09-17]
Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]
PubMed DOI Crossref
Hemolytic uremic syndrome caused by Shiga toxin-producing Escherichia coli in children: incidence, risk factors, and clinical outcome.
Ylinen E, Salmenlinna S, Halkilahti J, ..., Jalanko H, Saxén H
Pediatr Nephrol 35 (9) 1749-1759 [2020-09-00; online 2020-04-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A dynamic mutational landscape associated with an inter-regionally diverse immune response in malignant rhabdoid tumour.
Yasui H, Valind A, Karlsson J, ..., Backman T, Gisselsson D
J. Pathol. 252 (1) 22-28 [2020-09-00; online 2020-07-22]
Clinical Genomics Clinical Genomics Lund
PubMed DOI Crossref
Sex differences in oncogenic mutational processes.
Li CH, Prokopec SD, Sun RX, ..., Boutros PC, PCAWG Consortium
Nat Commun 11 (1) 4330 [2020-08-28; online 2020-08-28]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking.
Yang M, Safavi S, Woodward EL, ..., Nord KH, Paulsson K
Blood 136 (8) 946-956 [2020-08-20; online 2020-05-10]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.
Stödberg T, Magnusson M, Lesko N, ..., Stranneheim H, Wedell A
Neurol Genet 6 (4) e478 [2020-08-00; online 2020-07-02]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics.
Engvall M, Cahill N, Jonsson BI, ..., Hallböök H, Cavelier L
BMC Med Genomics 13 (1) 106 [2020-07-29; online 2020-07-29]
Clinical Genomics [Technology development] Clinical Genomics Uppsala [Technology development]
PubMed DOI Crossref
Extended-Spectrum-β-Lactamase- and Plasmid AmpC-Producing Escherichia coli Causing Community-Onset Bloodstream Infection: Association of Bacterial Clones and Virulence Genes with Septic Shock, Source of Infection, and Recurrence.
Fröding I, Hasan B, Sylvin I, ..., Nauclér P, Giske CG
Antimicrob. Agents Chemother. 64 (8) - [2020-07-22; online 2020-07-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS.
Malcovati L, Stevenson K, Papaemmanuil E, ..., Hellstrom-Lindberg E, Cazzola M
Blood 136 (2) 157-170 [2020-07-09; online 2020-04-30]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Clonal hematopoiesis in patients with high-grade B-cell lymphoma is associated with inferior outcome.
Amini RM, Ljungström V, Abdulla M, ..., Enblad G, Baliakas P
Am. J. Hematol. 95 (10) - [2020-07-06; online 2020-07-06]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Multiplex profiling of serum proteins in solution using barcoded antibody fragments and next generation sequencing.
Brofelth M, Ekstrand AI, Gour S, ..., Axelsson U, Borrebaeck CAK
Commun Biol 3 (1) 339 [2020-07-03; online 2020-07-03]
Clinical Genomics Clinical Genomics Lund
PubMed DOI Crossref
Loqusdb: added value of an observations database of local genomic variation.
Magnusson M, Eisfeldt J, Nilsson D, ..., Wedell A, Stranneheim H
BMC Bioinformatics 21 (1) 273 [2020-07-01; online 2020-07-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development]
PubMed DOI Crossref
Support systems to guide clinical decision-making in precision oncology: The Cancer Core Europe Molecular Tumor Board Portal.
Tamborero D, Dienstmann R, Rachid MH, ..., Rodon J, Lehtiö J
Nat. Med. 26 (7) 992-994 [2020-07-00; online 2020-07-08]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] Global Proteomics and Proteogenomics [Technology development]
PubMed DOI Crossref
PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells.
Hofvander J, Jo VY, Fletcher CDM, ..., Magnusson L, Mertens F
Mod. Pathol. 33 (7) 1331-1340 [2020-07-00; online 2020-01-13]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Genomic epidemiology and antimicrobial resistance determinants of Neisseria gonorrhoeae isolates from Ukraine, 2013-2018.
Boiko I, Golparian D, Jacobsson S, ..., Shevchenko T, Unemo M
APMIS 128 (7) 465-475 [2020-07-00; online 2020-05-23]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Decreased detection of ESBL- or pAmpC-producing Escherichia coli in broiler breeders imported into Sweden.
Nilsson O, Börjesson S, Landén A, Greko C, Bengtsson B
Acta Vet. Scand. 62 (1) 33 [2020-06-22; online 2020-06-22]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
DOI Crossref
Chanjo: Clincal grade sequence coverage analysis
Andeer R, Magnusson M, Wedell A, Stranneheim H
F1000Res 9 (-) 615 [2020-06-16; online 2020-06-16]
Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development]
Sales of antibiotics and occurrence of resistance in Sweden
Swedres-Svarm 19088 (-) 1-128 [2020-06-09; online 2020-06-09]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
High genomic-based predicted strain coverage among invasive meningococcal isolates when combining Bexsero and Trumenba vaccines.
Säll O, Olofsson E, Jacobsson S
Vaccine 38 (28) 4374-4378 [2020-06-09; online 2020-05-12]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Genomic analysis and antimicrobial resistance of Neisseria gonorrhoeae isolates from Vietnam in 2011 and 2015-16.
Lan PT, Golparian D, Ringlander J, ..., Van Thuong N, Unemo M
J. Antimicrob. Chemother. 75 (6) 1432-1438 [2020-06-01; online 2020-02-19]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.
Tomić TT, Olausson J, Rehammar A, ..., Wassén ON, Abel F
PLoS Genet. 16 (6) e1008803 [2020-06-00; online 2020-06-08]
Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]
PubMed DOI Crossref
An immune gene expression signature distinguishes central nervous system metastases from primary tumours in non-small-cell lung cancer.
Tsakonas G, Lewensohn R, Botling J, ..., Hydbring P, Ekman S
Eur. J. Cancer 132 (-) 24-34 [2020-06-00; online 2020-04-20]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Staphylococcus argenteus as an etiological agent of prosthetic hip joint infection: a case presentation.
Söderquist B, Wildeman P, Stenmark B, Stegger M
J Bone Jt Infect 5 (4) 172-175 [2020-05-25; online 2020-05-25]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Körberg I, Nowinski D, Bondeson ML, ..., Kölby L, Stattin EL
BMC Med. Genet. 21 (1) 90 [2020-05-05; online 2020-05-05]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma.
Sjödahl G, Eriksson P, Patschan O, ..., Liedberg F, Höglund M
Int. J. Cancer 146 (9) 2636-2647 [2020-05-01; online 2019-11-14]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Recurrent Fusions Between YAP1 and KMT2A in Morphologically Distinct Neoplasms Within the Spectrum of Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma.
Puls F, Agaimy A, Flucke U, ..., Arbajian E, Mertens F
Am. J. Surg. Pathol. 44 (5) 594-606 [2020-05-00; online 2020-01-09]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Early growth response 1 regulates hematopoietic support and proliferation in human primary bone marrow stromal cells.
Li H, Lim HC, Zacharaki D, ..., Hansson J, Scheding S
Haematologica 105 (5) 1206-1215 [2020-05-00; online 2019-08-01]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Deep sequencing of myxoinflammatory fibroblastic sarcoma.
Arbajian E, Hofvander J, Magnusson L, Mertens F
Genes Chromosomes Cancer 59 (5) 309-317 [2020-05-00; online 2020-01-31]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma.
Haider Z, Landfors M, Golovleva I, ..., Hultdin M, Degerman S
Blood Cancer J 10 (4) 45 [2020-04-28; online 2020-04-28]
Clinical Genomics [Service] Clinical Genomics Umeå [Service]
PubMed DOI Crossref
Low occurrence of extended-spectrum cephalosporinase producing Enterobacteriaceae and no detection of methicillin-resistant coagulase-positive staphylococci in healthy dogs in Sweden.
Börjesson S, Gunnarsson L, Landén A, Grönlund U
Acta Vet. Scand. 62 (1) 18 [2020-04-25; online 2020-04-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Difference in virulence between Neisseria meningitidis serogroups W and Y in transgenic mice.
Eriksson L, Stenmark B, Deghmane A, ..., Mölling P, Taha M
BMC Microbiol. 20 (1) 92 [2020-04-15; online 2020-04-15]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Ex Vivo Organoid Cultures Reveal the Importance of the Tumor Microenvironment for Maintenance of Colorectal Cancer Stem Cells.
Li X, Larsson P, Ljuslinder I, ..., Edin S, Palmqvist R
Cancers (Basel) 12 (4) 923 [2020-04-10; online 2020-04-10]
Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]
PubMed DOI Crossref
Genomic characterization and outcome of prosthetic joint infections caused by Staphylococcus aureus.
Wildeman P, Tevell S, Eriksson C, ..., Söderquist B, Stenmark B
Sci Rep 10 (1) 5938 [2020-04-03; online 2020-04-03]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide.
Malmström A, Łysiak M, Åkesson L, ..., Green H, Söderkvist P
Pharmacogenomics J. 20 (2) 213-219 [2020-04-00; online 2019-10-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
A link between the newly described colistin resistance gene mcr-9 and clinical Enterobacteriaceae isolates carrying blaSHV-12 from horses in Sweden.
Börjesson S, Greko C, Myrenås M, ..., Nilsson O, Pedersen K
J Glob Antimicrob Resist 20 (-) 285-289 [2020-03-00; online 2019-09-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Complete genome and methylome analysis of Neisseria meningitidis associated with increased serogroup Y disease.
Stenmark B, Harrison OB, Eriksson L, ..., Maiden MCJ, Mölling P
Sci Rep 10 (1) 3644 [2020-02-27; online 2020-02-27]
Clinical Genomics [Technology development] Clinical Genomics Örebro [Technology development]
PubMed DOI Crossref
Streptococcus pneumoniae Nasopharyngeal Carriage among PCV-10-Vaccinated HIV-1-Infected Children with Maintained Serological Memory in Ethiopia.
Lemma M, Bekele Y, Petkov S, ..., Howe R, Chiodi F
Pathogens 9 (3) 159 [2020-02-25; online 2020-02-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Clonal competition within complex evolutionary hierarchies shapes AML over time.
Sandén C, Lilljebjörn H, Orsmark Pietras C, ..., Ågerstam H, Fioretos T
Nat Commun 11 (1) 579 [2020-02-05; online 2020-02-05]
Clinical Genomics Clinical Genomics Lund
PubMed DOI Crossref
Genomic and transcriptomic features of dermatofibrosarcoma protuberans: Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development.
Köster J, Arbajian E, Viklund B, ..., Mandahl N, Mertens F
Cancer Genet 241 (-) 34-41 [2020-02-00; online 2019-12-10]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Clinical Genomics Lund
PubMed DOI Crossref
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants.
Garcia M, Juhos S, Larsson M, ..., Käller M, Nystedt B
F1000Res 9 (-) 63 [2020-01-29; online 2020-01-29]
Bioinformatics (NBIS) [Technology development] Bioinformatics Long-term Support WABI [Technology development] Bioinformatics Support and Infrastructure [Technology development] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Technology development] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Hepatitis E virus genotype 3 strains and a plethora of other viruses detected in raw and still in tap water.
Wang H, Kjellberg I, Sikora P, ..., Bergstedt O, Norder H
Water Res. 168 (-) 115141 [2020-01-01; online 2019-09-30]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Do we really know who has an MGMT methylated glioma? Results of an international survey regarding use of MGMT analyses for glioma.
Malmström A, Łysiak M, Kristensen BW, ..., Henriksson R, Söderkvist P
Neurooncol Pract 7 (1) 68-76 [2020-01-00; online 2019-09-24]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Cell-of-origin determined by both gene expression profiling and immunohistochemistry is the strongest predictor of survival in patients with diffuse large B-cell lymphoma.
Abdulla M, Hollander P, Pandzic T, ..., Rosenquist R, Amini RM
Am. J. Hematol. 95 (1) 57-67 [2020-01-00; online 2019-11-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]

Year 2019

PubMed DOI Crossref
Arteria: An automation system for a sequencing core facility.
Dahlberg J, Hermansson J, Sturlaugsson S, ..., Hofmann O, Larsson P
Gigascience 8 (12) - [2019-12-01; online 2019-12-12]
Clinical Genomics [Technology development] Clinical Genomics Uppsala [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Undifferentiated pleomorphic sarcomas with PRDM10 fusions have a distinct gene expression profile.
Hofvander J, Puls F, Pillay N, ..., Nilsson J, Mertens F
J. Pathol. 249 (4) 425-434 [2019-12-00; online 2019-08-27]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM
Clin. Genet. 96 (6) 560-565 [2019-12-00; online 2019-08-21]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Angioimmunoblastic T-cell lymphoma and myelodysplastic syndrome with mutations in TET2, DNMT3 and CUX1 - azacitidine induces only lymphoma remission.
Tobiasson M, Pandzic T, Cavelier L, Sander B, Wahlin BE
Leuk. Lymphoma 60 (13) 3316-3319 [2019-12-00; online 2019-06-17]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A, Eisfeldt J, Pettersson M, ..., Lundin J, Nilsson D
Genome Med 11 (1) 68 [2019-11-07; online 2019-11-07]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Comparative distribution of extended-spectrum beta-lactamase-producing Escherichia coli from urine infections and environmental waters.
Fagerström A, Mölling P, Khan FA, ..., Jass J, Söderquist B
PLoS ONE 14 (11) e0224861 [2019-11-07; online 2019-11-07]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
Chibani Z, Abid IZ, Molbaek A, ..., Feki J, Hmani-Aifa M
Clin Exp Ophthalmol 47 (8) 1063-1073 [2019-11-00; online 2019-07-24]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
Molecular pathology of the luminal class of urothelial tumors.
Bernardo C, Eriksson P, Marzouka NA, ..., Sjödahl G, Höglund M
J. Pathol. 249 (3) 308-318 [2019-11-00; online 2019-08-27]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Genomic analysis of Staphylococcus capitis isolated from blood cultures in neonates at a neonatal intensive care unit in Sweden.
Stenmark B, Hellmark B, Söderquist B
Eur. J. Clin. Microbiol. Infect. Dis. 38 (11) 2069-2075 [2019-11-00; online 2019-08-09]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Jensen KV, Frid M, Stödberg T, ..., Darin N, Grønborg S
JIMD Rep 50 (1) 1-8 [2019-11-00; online 2019-09-30]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Assessment of genetic and non-genetic risk factors for venous thromboembolism in glioblastoma - The predictive significance of B blood group.
Heenkenda MK, Malmström A, Lysiak M, ..., Uppugunduri S, Osman A
Thromb. Res. 183 (-) 136-142 [2019-11-00; online 2019-10-22]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma.
Dutta RK, Arnesen T, Heie A, ..., Söderkvist P, Gimm O
Eur. J. Endocrinol. 181 (5) K37-K41 [2019-11-00; online 2019-09-07]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed DOI Crossref
High-grade progression confers poor survival in pancreatic neuroendocrine tumors.
Botling J, Lamarca A, Bajic D, ..., Skogseid B, Crona J
Neuroendocrinology - (-) - [2019-10-29; online 2019-10-29]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Molecular subtypes applied to a population-based modern cystectomy series do not predict cancer-specific survival.
Kollberg P, Chebil G, Eriksson P, Sjödahl G, Liedberg F
Urol Oncol 37 (10) 791-799 [2019-10-00; online 2019-05-02]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A clonal expression biomarker associates with lung cancer mortality.
Biswas D, Birkbak NJ, Rosenthal R, ..., Swanton C, TRACERx Consortium
Nat. Med. 25 (10) 1540-1548 [2019-10-00; online 2019-10-07]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Prognostic Impact of BRAF and KRAS Mutation in Patients with Colorectal and Appendiceal Peritoneal Metastases Scheduled for CRS and HIPEC.
Graf W, Cashin PH, Ghanipour L, ..., Terman A, Birgisson H
Ann. Surg. Oncol. - (-) - [2019-09-30; online 2019-09-30]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung M, Shahsavani M, Taylan F, ..., Lindstrand A, Falk A
Front Genet 10 (-) 896 [2019-09-24; online 2019-09-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
FLT3N676K drives acute myeloid leukemia in a xenograft model of KMT2A-MLLT3 leukemogenesis.
Hyrenius-Wittsten A, Pilheden M, Falqués-Costa A, ..., Järås M, Hagström-Andersson AK
Leukemia 33 (9) 2310-2314 [2019-09-00; online 2019-04-05]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
Gudmundsson S, Wilbe M, Filipek-Górniok B, ..., Annerén G, Bondeson M
Sci Rep 9 (1) 10730 [2019-07-24; online 2019-07-24]
BioImage Informatics [Collaborative] Bioinformatics (NBIS) [['Collaborative', 'Service', 'Service']] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] Genome Engineering Zebrafish [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Androgen Receptor Burden and Poor Response to Abiraterone or Enzalutamide in TP53 Wild-Type Metastatic Castration-Resistant Prostate Cancer.
De Laere B, Rajan P, Grönberg H, ..., Lindberg J, CORE-ARV-CTC and ProBIO Investigators
JAMA Oncol 5 (7) 1060-1062 [2019-07-01; online 2019-05-03]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.
Clewemar P, Hailer NP, Hailer Y, ..., Ljunggren Ö, Stattin EL
Mol Genet Genomic Med 7 (7) e00723 [2019-07-00; online 2019-05-16]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-based epidemiology and antimicrobial resistance determinants of Neisseria gonorrhoeae isolates with decreased susceptibility and resistance to extended-spectrum cephalosporins in Argentina in 2011-16.
Gianecini RA, Golparian D, Zittermann S, ..., Galarza P, Gonococcal Antimicrobial Susceptibility Surveillance Programme-Argentina (GASSP-AR) Working Group
J. Antimicrob. Chemother. 74 (6) 1551-1559 [2019-06-01; online 2019-03-02]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.
Blomqvist M, Smeland MF, Lindgren J, ..., Riise Stensland HMF, Asin-Cayuela J
Cold Spring Harb Mol Case Stud 5 (3) a003954 [2019-06-00; online 2019-06-03]
Clinical Genomics [['Collaborative', 'Service']] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Staphylococcus aureus isolates from nares of orthopaedic patients in Sweden are mupirocin susceptible.
Magnusson C, Stegger M, Hellmark B, Stenmark B, Söderquist B
Infect Dis (Lond) 51 (6) 475-478 [2019-06-00; online 2019-04-15]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Somatic alterations detected in diagnostic prostate biopsies provide an inadequate representation of multifocal prostate cancer.
Kristiansen A, Bergström R, Delahunt B, ..., Egevad L, Lindberg J
Prostate 79 (8) 920-928 [2019-06-00; online 2019-03-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C, Laine I, Dallabona C, ..., Wredenberg A, Wedell A
Mol Genet Genomic Med 7 (6) e654 [2019-06-00; online 2019-03-28]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene fusion involving the insulin-like growth factor 1 receptor in an ALK-negative inflammatory myofibroblastic tumour.
Piarulli G, Puls F, Wängberg B, ..., Arbajian E, Mertens F
Histopathology 74 (7) 1098-1102 [2019-06-00; online 2019-04-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
Gudmundsson S, Annerén G, Marcos-Alcalde Í, ..., Gómez-Puertas P, Bondeson ML
Eur J Med Genet 62 (6) 103526 [2019-06-00; online 2018-08-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
A urinary extracellular vesicle microRNA biomarker discovery pipeline; from automated extracellular vesicle enrichment by acoustic trapping to microRNA sequencing.
Ku A, Ravi N, Yang M, ..., Lilja H, Ceder Y
PLoS ONE 14 (5) e0217507 [2019-05-29; online 2019-05-29]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Calvo-Garrido J, Maffezzini C, Schober FA, ..., Freyer C, Wredenberg A
Stem Cell Reports 12 (4) 696-711 [2019-04-09; online 2019-02-28]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular Characterization and Comparative Genomics of Clinical Hybrid Shiga Toxin-Producing and Enterotoxigenic Escherichia coli (STEC/ETEC) Strains in Sweden.
Bai X, Zhang J, Ambikan A, ..., Xiong Y, Matussek A
Sci Rep 9 (1) 5619 [2019-04-04; online 2019-04-04]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.
Yang M, Vesterlund M, Siavelis I, ..., Lehtiö J, Paulsson K
Nat Commun 10 (1) 1519 [2019-04-03; online 2019-04-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service] Global Proteomics and Proteogenomics [Technology development]
PubMed DOI Crossref
Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11.
La Fleur L, Falk-Sörqvist E, Smeds P, ..., Moens L, Botling J
Lung Cancer 130 (-) 50-58 [2019-04-00; online 2019-01-09]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Increase of invasive meningococcal serogroup W disease in Europe, 2013 to 2017.
Krone M, Gray S, Abad R, ..., Vogel U, Borrow R
Euro Surveill. 24 (14) - [2019-04-00; online 2019-04-11]
Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]
PubMed DOI Crossref
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
Grigelioniene G, Suzuki HI, Taylan F, ..., Sharp PA, Kobayashi T
Nat. Med. 25 (4) 583-590 [2019-04-00; online 2019-02-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Thuresson AC, Soussi Zander C, Zhao JJ, ..., Öhrner Y, Feuk L
Clin. Genet. 95 (3) 436-439 [2019-03-00; online 2018-12-07]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Drug sensitivity testing on patient-derived sarcoma cells predicts patient response to treatment and identifies c-Sarc inhibitors as active drugs for translocation sarcomas.
Brodin BA, Wennerberg K, Lidbrink E, ..., Kallioniemi O, Stragliotto CL
Br. J. Cancer 120 (4) 435-443 [2019-02-00; online 2019-02-12]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
Eisfeldt J, Pettersson M, Vezzi F, ..., Carvalho CMB, Lindstrand A
PLoS Genet. 15 (2) e1007858 [2019-02-00; online 2019-02-08]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Intra- and interpatient evolution of enterovirus D68 analyzed by whole-genome deep sequencing.
Dyrdak R, Mastafa M, Hodcroft EB, Neher RA, Albert J
Virus Evol 5 (1) vez007 [2019-01-00; online 2019-04-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
An integrated transcriptome analysis in T-cell acute lymphoblastic leukemia links DNA methylation subgroups to dysregulated TAL1 and ANTP homeobox gene expression.
Haider Z, Larsson P, Landfors M, ..., Hultdin M, Degerman S
Cancer Med 8 (1) 311-324 [2019-01-00; online 2018-12-21]
Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]

Year 2018

PubMed DOI Crossref
Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases.
Li JF, Dai YT, Lilljebjörn H, ..., Chen SJ, Huang JY
Proc. Natl. Acad. Sci. U.S.A. 115 (50) E11711-E11720 [2018-12-11; online 2018-11-28]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M, Taylan F, Nilsson D, ..., Nordgren A, Lundberg ES
Clin. Genet. 94 (6) 528-537 [2018-12-00; online 2018-10-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
Lundin KE, Wang Q, Hamasy A, ..., Ekwall O, Smith CIE
BMC Pediatr 18 (1) 285 [2018-12-00; online 2018-08-29]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia
Shiozawa Y, Malcovati L, Gallì A, ..., Ogawa S, Cazzola M
Nat Commun 9 (1) - [2018-12-00; online 2018-09-07]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis.
Mayrhofer M, De Laere B, Whitington T, ..., Grönberg H, Lindberg J
Genome Med 10 (1) 85 [2018-11-21; online 2018-05-11]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
LMO7 and LIMCH1 interact with LRIG proteins in lung cancer, with prognostic implications for early-stage disease.
Karlsson T, Kvarnbrink S, Holmlund C, ..., Johansson M, Hedman H
Lung Cancer 125 (-) 174-184 [2018-11-00; online 2018-09-24]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers.
Valind A, Wessman S, Pal N, ..., Sandstedt B, Gisselsson D
Pediatr Blood Cancer 65 (11) e27301 [2018-11-00; online 2018-07-03]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Chorea, psychosis, acanthocytosis, and prolonged survival associated with
Paucar M, Pajak A, Freyer C, ..., Wredenberg A, Svenningsson P
Neurology 91 (15) 710-712 [2018-10-09; online 2018-09-14]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira CR, Xia ZJ, Clément A, ..., Gahl WA, Freeze HH
Am. J. Hum. Genet. 103 (4) 553-567 [2018-10-04; online 2018-10-06]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Hepatitis E Virus Genotype 3 Genomes from RNA-Positive but Serologically Negative Plasma Donors Have CUG as the Start Codon for ORF3.
Norder H, Galli C, Magnil E, ..., Nyström K, Magnius LO
Intervirology 61 (2) 96-103 [2018-10-02; online 2018-10-02]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Development and Validation of a Novel RNA Sequencing-Based Prognostic Score for Acute Myeloid Leukemia.
Wang M, Lindberg J, Klevebring D, ..., Grönberg H, Rantalainen M
J. Natl. Cancer Inst. 110 (10) 1094-1101 [2018-10-01; online 2018-03-06]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Pettersson M, Vaz R, Hammarsjö A, ..., Grigelioniene G, Lindstrand A
Hum. Mutat. 39 (10) 1456-1467 [2018-10-00; online 2018-08-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Male sex and the pattern of recurrent myeloid mutations are strong independent predictors of blood transfusion intensity in patients with myelodysplastic syndromes
Rydén J, Edgren G, Karimi M, ..., Hellström-Lindberg E, Höglund P
Leukemia - (-) - [2018-09-28; online 2018-09-28]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations
Pellagatti A, Armstrong RN, Steeples V, ..., Smith S, Boultwood J
Blood 132 (12) 1225-1240 [2018-09-20; online 2018-06-21]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
TP53 outperforms other androgen receptor biomarkers to predict abiraterone or enzalutamide outcome in metastatic castration-resistant prostate cancer.
De Laere B, Oeyen S, Mayrhofer M, ..., Lindberg J, Dirix LY
Clin. Cancer Res. - (-) - [2018-09-12; online 2018-09-12]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Neuroblastoma with flat genomic profile: a question of representativity?
Valind A, Öra I, Mertens F, Gisselsson D
BMJ Case Reports 2018 (-) bcr-2018-225568 [2018-09-08; online 2018-09-08]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
DOI Crossref
Ein Fall von Pankreaskarzinom
Löhr JM, Kordes M, Gustafsson-Liljefors M, ..., Permert J, Jäger D
Forum 33 (4) 232-235 [2018-09-00; online 2018-08-14]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Characterization of Swedish Campylobacter coli clade 2 and clade 3 water isolates.
Nilsson A, Skarp A, Johansson C, ..., Engstrand L, Rautelin H
Microbiologyopen 7 (4) e00583 [2018-08-00; online 2018-02-09]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Gastrointestinal microbiota contributes to the development of murine transfusion-related acute lung injury.
Kapur R, Kim M, Rebetz J, ..., Speck ER, Semple JW
Blood Adv 2 (13) 1651-1663 [2018-07-10; online 2018-07-12]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Primary glioblastoma cells for precision medicine: a quantitative portrait of genomic (in)stability during the first 30 passages.
Baskaran S, Mayrhofer M, Kultima HG, ..., Isaksson A, Nelander S
Neuro-oncology 20 (8) 1080-1091 [2018-07-05; online 2018-02-21]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.
Tham E, Grigelionis G, Hammarsjö A, Grigelioniene G
J. Bone Miner. Res. 33 (7) 1377-1378 [2018-07-00; online 2018-06-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
appreci8: a pipeline for precise variant calling integrating 8 tools
Sandmann S, Karimi M, de Graaf AO, ..., Jansen JH, Dugas M
- - (-) - [2018-06-26; online 2018-06-26]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.
Darin N, Leckström K, Sikora P, ..., Almén G, Asin-Cayuela J
Eur. J. Hum. Genet. 26 (6) 808-817 [2018-06-00; online 2018-02-26]
Clinical Genomics [['Collaborative', 'Service']] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Microenvironmental control of breast cancer subtype elicited through paracrine platelet-derived growth factor-CC signaling.
Roswall P, Bocci M, Bartoschek M, ..., Eriksson U, Pietras K
Nat. Med. 24 (4) 463-473 [2018-05-00; online 2018-03-12]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Expression of scavenger receptor MARCO defines a targetable tumor-associated macrophage subset in non-small cell lung cancer.
La Fleur L, Boura VF, Alexeyenko A, ..., Karlsson MCI, Botling J
Int. J. Cancer - (-) - [2018-04-18; online 2018-04-18]
Bioinformatics (NBIS) [['Service', 'Service']] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete Remission with Reduction of High-Risk Clones following Haploidentical NK-Cell Therapy against MDS and AML
Björklund AT, Carlsten M, Sohlberg E, ..., Ljunggren HG, Malmberg KJ
Clin. Cancer Res. 24 (8) 1834-1844 [2018-04-15; online 2018-02-14]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Expression levels of long non-coding RNAs are prognostic for AML outcome.
Mer AS, Lindberg J, Nilsson C, ..., Lehmann S, Rantalainen M
J Hematol Oncol 11 (1) 52 [2018-04-07; online 2018-04-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Differential removal of human pathogenic viruses from sewage by conventional and ozone treatments.
Wang H, Sikora P, Rutgersson C, ..., Larsson DGJ, Norder H
International Journal of Hygiene and Environmental Health 221 (3) 479-488 [2018-04-00; online 2018-02-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, ..., Vandeweyer G, Kooy RF
Biol. Psychiatry - (-) - [2018-03-15; online 2018-03-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.
Tran AN, Taylan F, Zachariadis V, ..., Nilsson D, Barbany G
PLoS ONE 13 (3) e0193928 [2018-03-12; online 2018-03-12]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Clinical Value of RNA Sequencing-Based Classifiers for Prediction of the Five Conventional Breast Cancer Biomarkers: A Report From the Population-Based Multicenter Sweden Cancerome Analysis Network-Breast Initiative.
Brueffer C, Vallon-Christersson J, Grabau D, ..., Borg Å, Saal LH
JCO Precision Oncology 2 (2) 1-18 [2018-03-09; online 2018-03-09]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
PubMed DOI Crossref
Isolated myelosarcoma is characterized by recurrent NFE2 mutations and concurrent preleukemic clones in the bone marrow.
Lazarevic V, Orsmark-Pietras C, Lilljebjörn H, ..., Juliusson G, Fioretos T
Blood 131 (5) 577-581 [2018-02-01; online 2017-11-30]
Clinical Genomics [Collaborative] Clinical Genomics Lund [Collaborative]
PubMed DOI Crossref
Megakaryocytes harbour the del(5q) abnormality despite complete clinical and cytogenetic remission induced by lenalidomide treatment
Scharenberg C, Jansson M, Saft L, Hellström-Lindberg E
Br J Haematol 180 (4) 526-533 [2018-02-00; online 2018-01-29]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Differential impact of RB status on E2F1 reprogramming in human cancer.
McNair C, Xu K, Mandigo AC, ..., Brown M, Knudsen KE
J. Clin. Invest. 128 (1) 341-358 [2018-01-02; online 2017-12-04]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Minimizing inequality in access to precision medicine in breast cancer by real-time population-based molecular analysis in the SCAN-B initiative.
Rydén L, Loman N, Larsson C, ..., Saal LH, Borg Å
Br J Surg 105 (2) e158-e168 [2018-01-00; online 2018-01-18]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Lund [Collaborative]

Year 2017

PubMed DOI Crossref
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.
Olsson KS, Wålinder O, Jansson U, ..., Raha-Chowdhury R, Williams R
Hereditas 154 (1) 16 [2017-12-19; online 2017-12-19]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Gene expression and risk of leukemic transformation in myelodysplasia.
Shiozawa Y, Malcovati L, Gallì A, ..., Cazzola M, Ogawa S
Blood 130 (24) 2642-2653 [2017-12-14; online 2017-11-02]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Genomic and phenotypic characteristics of Swedish C. jejuni water isolates.
Nilsson A, Johansson C, Skarp A, ..., Engstrand L, Rautelin H
PLoS ONE 12 (12) e0189222 [2017-12-07; online 2017-12-07]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Integrative analysis of genome-wide gene copy number changes and gene expression in non-small cell lung cancer.
Jabs V, Edlund K, König H, ..., Hengstler JG, Micke P
PLoS ONE 12 (11) e0187246 [2017-11-07; online 2017-11-07]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Wilbe M, Gudmundsson S, Johansson J, ..., Frykholm C, Bondeson ML
Prenat. Diagn. 37 (11) 1146-1154 [2017-11-00; online 2017-10-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
Bondeson ML, Ericson K, Gudmundsson S, ..., Frykholm C, Wilbe M
Clin. Genet. 92 (5) 510-516 [2017-11-00; online 2017-05-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
RANK rewires energy homeostasis in lung cancer cells and drives primary lung cancer.
Rao S, Sigl V, Wimmer RA, ..., Dougall W, Penninger JM
Genes Dev. 31 (20) 2099-2112 [2017-10-15; online 2017-11-08]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C.
Sundin M, Uhlin M, Gaballa A, ..., Marits P, Nilsson J
Pediatr Allergy Immunol - (-) - [2017-10-05; online 2017-10-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Validation of risk stratification models in acute myeloid leukemia using sequencing-based molecular profiling.
Wang M, Lindberg J, Klevebring D, ..., Lehmann S, Grönberg H
Leukemia 31 (10) 2029-2036 [2017-10-00; online 2017-02-07]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Tumor SHB gene expression affects disease characteristics in human acute myeloid leukemia.
Jamalpour M, Li X, Cavelier L, ..., Höglund M, Welsh M
Tumour Biol. 39 (10) 1010428317720643 [2017-10-00; online 2017-10-07]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer.
Malgerud L, Lindberg J, Wirta V, ..., Grönberg H, Löhr JM
Mol Oncol 11 (10) 1413-1429 [2017-10-00; online 2017-08-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
New oncogenic subtypes in pediatric B-cell precursor acute lymphoblastic leukemia.
Lilljebjörn H, Fioretos T
Blood 130 (12) 1395-1401 [2017-09-21; online 2017-08-04]
Clinical Genomics [Collaborative] Clinical Genomics Lund [Collaborative]
PubMed DOI Crossref
The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.
Yip BH, Steeples V, Repapi E, ..., Pellagatti A, Boultwood J
J. Clin. Invest. 127 (9) 3557 [2017-09-01; online 2017-09-01]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells
Mortera-Blanco T, Dimitriou M, Woll PS, ..., Jacobsen SEW, Hellström-Lindberg E
Blood 130 (7) 881-890 [2017-08-17; online 2017-06-20]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles.
Marincevic-Zuniga Y, Dahlberg J, Nilsson S, ..., Nordlund J, Syvänen AC
J Hematol Oncol 10 (1) 148 [2017-08-14; online 2017-08-14]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Gene Expression Profiling of Large Cell Lung Cancer Links Transcriptional Phenotypes to the New Histological WHO 2015 Classification
Karlsson A, Brunnström H, Micke P, ..., Planck M, Staaf J
Journal of Thoracic Oncology 12 (8) 1257-1267 [2017-08-00; online 2017-08-00]
Clinical Genomics [['Service', 'Collaborative']] Clinical Genomics Lund [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Comprehensive Profiling of the Androgen Receptor in Liquid Biopsies from Castration-resistant Prostate Cancer Reveals Novel Intra-AR Structural Variation and Splice Variant Expression Patterns.
De Laere B, van Dam PJ, Whitington T, ..., Grönberg H, Lindberg J
Eur. Urol. 72 (2) 192-200 [2017-08-00; online 2017-01-16]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Reaching the limits of prognostication in non-small cell lung cancer: an optimized biomarker panel fails to outperform clinical parameters.
Grinberg M, Djureinovic D, Brunnström HR, ..., Rahnenführer J, Micke P
Mod. Pathol. 30 (7) 964-977 [2017-07-00; online 2017-03-10]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] Tissue Profiling [Collaborative]
PubMed DOI Crossref
Integrative Genomics Identifies the Molecular Basis of Resistance to Azacitidine Therapy in Myelodysplastic Syndromes
Unnikrishnan A, Papaemmanuil E, Beck D, ..., Campbell PJ, Pimanda JE
Cell Rep 20 (3) 572-585 [2017-07-00; online 2017-07-00]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.
Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A
F1000Res 6 (-) 664 [2017-05-10; online 2017-05-10]
Bioinformatics (NBIS) [['Collaborative', 'Collaborative']] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Immune Biomarkers on the Radar—Comprehensive “Immunograms” for Multimodal Treatment Prediction
Botling J, Sandelin M
Journal of Thoracic Oncology 12 (5) 770-772 [2017-05-00; online 2017-05-00]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Genetic Profile of Ductal Adenocarcinoma of the Prostate.
Seipel AH, Whitington T, Delahunt B, ..., Lindberg J, Egevad L
Hum. Pathol. - (-) - [2017-04-27; online 2017-04-27]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Tegelberg S, Tomašić N, Kallijärvi J, ..., Eklund EA, Fellman V
Orphanet J Rare Dis 12 (1) 73 [2017-04-20; online 2017-04-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, ..., Cammenga J, Bryceson YT
Blood 129 (16) 2266-2279 [2017-04-20; online 2017-02-15]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.
Mathot L, Kundu S, Ljungström V, ..., Nilsson M, Sjöblom T
Cancer Res. 77 (7) 1730-1740 [2017-04-01; online 2017-01-20]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.
Davies H, Glodzik D, Morganella S, ..., Stratton MR, Nik-Zainal S
Nat. Med. 23 (4) 517-525 [2017-04-00; online 2017-03-13]
Clinical Genomics [Collaborative] Clinical Genomics Lund [Collaborative]
PubMed DOI Crossref
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene G, Nevalainen PI, Reyes M, ..., Mäkitie O, Jüppner H
J. Bone Miner. Res. 32 (4) 776-783 [2017-04-00; online 2017-02-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Gudmundsson S, Wilbe M, Ekvall S, ..., Törmä H, Bondeson ML
Hum. Mol. Genet. 26 (6) 1070-1077 [2017-03-15; online 2017-02-06]
Affinity Proteomics Uppsala [Collaborative] Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative] PLA and Single Cell Proteomics [Service]
PubMed DOI Crossref
Stool frequency is associated with gut microbiota composition.
Hadizadeh F, Walter S, Belheouane M, ..., Franke A, D'Amato M
Gut 66 (3) 559-560 [2017-03-00; online 2016-05-20]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Genomic Variation in IbA10G2 and Other Patient-Derived Cryptosporidium hominis Subtypes.
Sikora P, Andersson S, Winiecka-Krusnell J, ..., Beser J, Arrighi RB
J. Clin. Microbiol. 55 (3) 844-858 [2017-03-00; online 2016-12-21]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data.
Sandmann S, de Graaf AO, Karimi M, ..., Jansen JH, Dugas M
Sci Rep 7 (-) 43169 [2017-02-24; online 2017-02-24]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Human Adrenal Gland Proteome Defined by Transcriptomics and Antibody-Based Profiling.
Bergman J, Botling J, Fagerberg L, ..., Uhlén M, Pontén F
Endocrinology 158 (2) 239-251 [2017-02-01; online 2016-12-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Technology development]
PubMed DOI Crossref
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Nilsson D, Pettersson M, Gustavsson P, ..., Carvalho CMB, Lindstrand A
Hum. Mutat. 38 (2) 180-192 [2017-02-00; online 2016-12-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Bramswig NC, Lüdecke HJ, Pettersson M, ..., Kleefstra T, Wieczorek D
Hum. Genet. 136 (2) 179-192 [2017-02-00; online 2016-11-15]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of two distinct mesenchymal stromal cell populations in human malignant glioma.
Svensson A, Ramos-Moreno T, Eberstål S, Scheding S, Bengzon J
J. Neurooncol. 131 (2) 245-254 [2017-01-00; online 2016-10-18]
Clinical Genomics [Service] Clinical Genomics Lund [Service]

Year 2016

PubMed DOI Crossref
Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma.
Mansouri L, Noerenberg D, Young E, ..., Rosenquist R, Damm F
Blood 128 (23) 2666-2670 [2016-12-08; online 2016-09-26]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Henström M, Diekmann L, Bonfiglio F, ..., Naim HY, D'Amato M
Gut - (-) - [2016-11-21; online 2016-11-21]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, ..., Byers PH, Zschocke J
Am. J. Hum. Genet. 99 (5) 1005-1014 [2016-11-03; online 2016-10-18]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.
Asad S, Winge MC, Wahlgren CF, ..., Taylan F, Bradley M
J Eur Acad Dermatol Venereol 30 (11) 1939-1941 [2016-11-00; online 2016-10-25]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
Kostareva A, Kiselev A, Gudkova A, ..., Sejersen T, Shlyakhto E
PLoS ONE 11 (9) e0163362 [2016-09-23; online 2016-09-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Limited clonal relatedness between gut IgA plasma cells and memory B cells after oral immunization.
Bemark M, Hazanov H, Strömberg A, ..., Mehr R, Lycke NY
Nat Commun 7 (-) 12698 [2016-09-06; online 2016-09-06]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative]
PubMed DOI Crossref
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, ..., Carroll CJ, Klopstock T
Am. J. Hum. Genet. 99 (3) 735-743 [2016-09-01; online 2016-08-23]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.
Ivanov Öfverholm I, Tran AN, Olsson L, ..., Nordgren A, Barbany G
Leuk. Lymphoma 57 (9) 2161-2170 [2016-09-00; online 2016-04-20]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond.
Rosenquist R, Rosenwald A, Du MQ, ..., Stamatopoulos K, European Research Initiative on CLL (ERIC) and the European Association for Haematopathology (EAHP)
Haematologica 101 (9) 1002-1009 [2016-09-00; online 2016-09-02]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
ATM mutations in major stereotyped subsets of chronic lymphocytic leukemia: enrichment in subset #2 is associated with markedly short telomeres.
Navrkalova V, Young E, Baliakas P, ..., Rosenquist R, Trbusek M
Haematologica 101 (9) e369-e373 [2016-09-00; online 2016-08-02]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Inconsistent results in the analysis of ALK rearrangements in non-small cell lung cancer.
Mattsson JS, Brunnström H, Jabs V, ..., Micke P, Svensson MA
BMC Cancer 16 (-) 603 [2016-08-05; online 2016-08-05]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
Profiling cancer testis antigens in non-small-cell lung cancer.
Djureinovic D, Hallström BM, Horie M, ..., Uhlén M, Micke P
JCI Insight 1 (10) e86837 [2016-07-07; online 2016-07-07]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
Draft Genome Sequence of Moraxella catarrhalis Type Strain CCUG 353T.
Jakobsson HE, Salvà-Serra F, Thorell K, ..., Kristiansson E, Moore ERB
Genome Announc 4 (3) e00552-16 [2016-06-16; online 2016-06-16]
Clinical Genomics [['Collaborative', 'Collaborative']] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.
Lilljebjörn H, Henningsson R, Hyrenius-Wittsten A, ..., Fontes M, Fioretos T
Nat Commun 7 (-) 11790 [2016-06-06; online 2016-06-06]
Clinical Genomics [Collaborative] Clinical Genomics Lund [Collaborative]
PubMed DOI Crossref
New technologies for DNA analysis--a review of the READNA Project.
McGinn S, Bauer D, Brefort T, ..., Willcocks JP, Gut IG
N Biotechnol 33 (3) 311-330 [2016-05-25; online 2015-10-26]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Ygberg S, Naess K, Eriksson M, ..., Wedell A, Wickström R
Eur. J. Paediatr. Neurol. 20 (3) 457-461 [2016-05-00; online 2016-03-16]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Draft Genome Sequence of Streptococcus gordonii Type Strain CCUG 33482T.
Salvà-Serra F, Jakobsson HE, Thorell K, ..., Kristiansson E, Moore ER
Genome Announc 4 (2) e00175-16 [2016-03-24; online 2016-03-24]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HA, Willemsen MH, Fenckova M, ..., Eichler EE, Kleefstra T
Am. J. Hum. Genet. 98 (3) 541-552 [2016-03-03; online 2016-03-05]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Innovation in the prognostication of chronic lymphocytic leukemia: how far beyond TP53 gene analysis can we go?
Pospisilova S, Sutton LA, Malcikova J, ..., Ghia P, European Research Initiative on CLL (ERIC)
Haematologica 101 (3) 263-265 [2016-03-00; online 2016-03-02]
Clinical Genomics [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations.
Ljungström V, Cortese D, Young E, ..., Sjöblom T, Rosenquist R
Blood 127 (8) 1007-1016 [2016-02-25; online 2015-12-18]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Exome sequencing in one family with gastric- and rectal cancer.
Thutkawkorapin J, Picelli S, Kontham V, ..., Nilsson D, Lindblom A
BMC Genet. 17 (-) 41 [2016-02-13; online 2016-02-13]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E, Eklund EA, Hammarsjö A, ..., Nishimura G, Grigelioniene G
Eur J Hum Genet 24 (2) 198-207 [2016-02-00; online 2015-05-13]
Clinical Genomics Clinical Genomics Stockholm
PubMed DOI Crossref
The protein kinase LKB1 negatively regulates bone morphogenetic protein receptor signaling.
Raja E, Tzavlaki K, Vuilleumier R, ..., Heldin CH, Moustakas A
Oncotarget 7 (2) 1120-1143 [2016-01-12; online 2015-12-25]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
The 5300-year-old Helicobacter pylori genome of the Iceman.
Maixner F, Krause-Kyora B, Turaev D, ..., Rattei T, Zink A
Science 351 (6269) 162-165 [2016-01-08; online 2016-01-09]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, ..., Nishimura G, Grigelioniene G
Am. J. Med. Genet. A 170A (1) 266-269 [2016-01-00; online 2015-10-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia.
Marincevic-Zuniga Y, Zachariadis V, Cavelier L, ..., Syvänen AC, Nordlund J
Haematologica 101 (1) e20-e23 [2016-01-00; online 2015-10-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.
Stranneheim H, Wedell A
J. Intern. Med. 279 (1) 3-15 [2016-01-00; online 2015-08-08]
Clinical Genomics [Service] Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
Composition of human faecal microbiota in resistance to Campylobacter infection.
Kampmann C, Dicksved J, Engstrand L, Rautelin H
Clin. Microbiol. Infect. 22 (1) 61.e1-61.e8 [2016-01-00; online 2015-09-16]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2015

PubMed DOI Crossref
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Lundin KE, Hamasy A, Backe PH, ..., Stenmark S, Smith CI
Clin. Immunol. 161 (2) 366-372 [2015-12-00; online 2015-10-19]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Kishita Y, Pajak A, Bolar NA, ..., Okazaki Y, Wedell A
Am. J. Hum. Genet. 97 (5) 761-768 [2015-11-05; online 2015-11-03]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, ..., Wredenberg A, Wedell A
J. Med. Genet. 52 (11) 779-783 [2015-11-00; online 2015-06-19]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples.
Moens LN, Falk-Sörqvist E, Ljungström V, ..., Nilsson M, Botling J
J Mol Diagn 17 (6) 729-739 [2015-11-00; online 2015-09-03]
Clinical Genomics Clinical Genomics Uppsala NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S, Wilbe M, Dahlgren J, ..., Annerén G, Bondeson ML
BMC Med. Genet. 16 (-) 95 [2015-10-14; online 2015-10-14]
Clinical Genomics Clinical Genomics Uppsala
PubMed DOI Crossref
Dormant phages of Helicobacter pylori reveal distinct populations in Europe.
Vale FF, Vadivelu J, Oleastro M, ..., Mégraud F, Lehours P
Sci Rep 5 (-) 14333 [2015-09-21; online 2015-09-21]
Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative]
PubMed DOI Crossref
Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing.
Parry M, Rose-Zerilli MJ, Ljungström V, ..., Oscier D, Strefford JC
Clin. Cancer Res. 21 (18) 4174-4183 [2015-09-15; online 2015-03-18]
Clinical Genomics Clinical Genomics Uppsala
PubMed DOI Crossref
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T, McTague A, Ruiz AJ, ..., Wedell A, Kurian MA
Nat Commun 6 (-) 8038 [2015-09-03; online 2015-09-03]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Comprehensive genomic profiles of small cell lung cancer
George J, Lim JS, Jang SJ, ..., Sage J, Thomas RK
Nature 524 (7563) 47-53 [2015-08-06; online 2015-07-13]
Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.
Malcovati L, Karimi M, Papaemmanuil E, ..., Cazzola M, Hellström Lindberg E
Blood 126 (2) 233-241 [2015-07-09; online 2015-05-10]
Clinical Genomics Clinical Genomics Uppsala NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.
Sutton LA, Ljungström V, Mansouri L, ..., Stamatopoulos K, Rosenquist R
Haematologica 100 (3) 370-376 [2015-03-00; online 2014-12-07]
Clinical Genomics Clinical Genomics Uppsala
PubMed DOI Crossref
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Wilbe M, Ekvall S, Eurenius K, ..., Annerén G, Bondeson ML
J. Med. Genet. 52 (3) 195-202 [2015-03-00; online 2015-01-22]
Clinical Genomics Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing.
Cavelier L, Ameur A, Häggqvist S, ..., Olsson-Strömberg U, Hermanson M
BMC Cancer 15 (-) 45 [2015-02-12; online 2015-02-12]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
CTNND2-a candidate gene for reading problems and mild intellectual disability.
Hofmeister W, Nilsson D, Topa A, ..., Syk Lundberg E, Lindstrand A
J. Med. Genet. 52 (2) 111-122 [2015-02-00; online 2014-12-05]
Clinical Genomics Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Year 2012

PubMed
The science of librarianship. University of Wales at Aberystwyth, July 31, 1917.
Osler W
J Med Libr Assoc 100 (4 Suppl) A [2012-10-00; online 2013-03-21]
Clinical Genomics [Service] Clinical Genomics Linköping [Service]
PubMed
Evaluating the effectiveness of clinical medical librarian programs: a systematic review of the literature. J Med Libr Assoc 92(1) January 2004.
Wagner KC, Byrd GD
J Med Libr Assoc 100 (4 Suppl) J [2012-10-00; online 2013-03-21]
Clinical Genomics [Service] Clinical Genomics Lund [Service]
SciLifeLab Data Centre
Publications 9.5.1